--- type: "firecrawl-provider" description: "dbSNP, NCBI's database of human short genetic variants (build 157: 1.17 billion live RefSNPs), through the keyless NCBI Variation Services API. Read one RefSNP by rsID: its GRCh38 and GRCh37 chromosome positions (1-based) and alleles with SPDI and HGVS, RefSeqGene placement, the genes, MANE Select and RefSeq transcripts it hits with HGVS c./p., one-letter amino-acid change and Sequence Ontology consequences, allele frequencies from each contributing study (gnomAD, 1000 Genomes, TOPMed, ALFA and about 30 others), ClinVar significance with RCV and VCV accessions and MONDO/OMIM/MedGen condition IDs, and citing PubMed IDs. Or read ALFA allele counts and frequencies across its 12 populations. Merged rsIDs are followed; withdrawn, unsupported and unknown ones are not_found with the reason. NCBI places no restrictions on the data; every result carries attribution, the contributing studies and, for ALFA, NIH's genomic summary results terms." use_when: "dbSNP, NCBI's database of human short genetic variants (build 157: 1.17 billion live RefSNPs), through the keyless NCBI Variation Services API. Read one RefSNP by rsID: its GRCh38 and GRCh37 chromosome positions (1-based) and alleles with SPDI and HGVS, RefSeqGene placement, the genes, MANE Select and RefSeq transcripts it hits with HGVS c./p., one-letter amino-acid change and Sequence Ontology consequences, allele frequencies from each contributing study (gnomAD, 1000 Genomes, TOPMed, ALFA and about 30 others), ClinVar significance with RCV and VCV accessions and MONDO/OMIM/MedGen condition IDs, and citing PubMed IDs. Or read ALFA allele counts and frequencies across its 12 populations. Merged rsIDs are followed; withdrawn, unsupported and unknown ones are not_found with the reason. NCBI places no restrictions on the data; every result carries attribution, the contributing studies and, for ALFA, NIH's genomic summary results terms." categories: "Life sciences" capabilities: 2 credits_per_call: 5 --- # dbSNP (NCBI) on Firecrawl Alexandria dbSNP, NCBI's database of human short genetic variants (build 157: 1.17 billion live RefSNPs), through the keyless NCBI Variation Services API. Read one RefSNP by rsID: its GRCh38 and GRCh37 chromosome positions (1-based) and alleles with SPDI and HGVS, RefSeqGene placement, the genes, MANE Select and RefSeq transcripts it hits with HGVS c./p., one-letter amino-acid change and Sequence Ontology consequences, allele frequencies from each contributing study (gnomAD, 1000 Genomes, TOPMed, ALFA and about 30 others), ClinVar significance with RCV and VCV accessions and MONDO/OMIM/MedGen condition IDs, and citing PubMed IDs. Or read ALFA allele counts and frequencies across its 12 populations. Merged rsIDs are followed; withdrawn, unsupported and unknown ones are not_found with the reason. NCBI places no restrictions on the data; every result carries attribution, the contributing studies and, for ALFA, NIH's genomic summary results terms. - Categories: Life sciences - Category index: [Life sciences category](https://firecrawl.dev/alexandria/agents/categories/life-sciences) - Provider key: `snp-ncbi-nlm-nih-gov` - Access: Firecrawl credits - Cost: 5 credits per call ## More - [Human guide](https://firecrawl.dev/app/alexandria/snp-ncbi-nlm-nih-gov) - [OpenAPI spec](https://firecrawl.dev/alexandria/agents/providers/snp-ncbi-nlm-nih-gov/openapi.json) ## Capabilities - [Frequency](https://firecrawl.dev/alexandria/agents/providers/snp-ncbi-nlm-nih-gov/variants/frequency): ALFA (NCBI's Allele Frequency Aggregator over open-access dbGaP studies) allele counts for one RefSNP by rsID, across its 12 populations: Total, European, African, African Others, African American, Asian, East Asian, Other Asian, Latin American 1, Latin American 2, South Asian and Other. Each population row has its BioSample ID, parent population, total chromosomes, and the count and frequency of every allele (reference first). Also returns the ALFA release, the GRCh38 interval the counts are keyed by (1-based start) and the alleles. A RefSNP ALFA has no counts for returns empty populations with a warning; merged rsIDs are not_found naming the current rsID to call; withdrawn, unsupported and unknown rsIDs are not_found with the reason. - [Get](https://firecrawl.dev/alexandria/agents/providers/snp-ncbi-nlm-nih-gov/variants/get): One dbSNP RefSNP by rsID (`rs429358`, `429358`) or dbSNP page URL. Returns status, variant type, created/updated dates and build; reference and alternate alleles; GRCh38 and GRCh37 chromosome placements (chromosome, 1-based start and end, reference, SPDI and HGVS g. per allele) and RefSeqGene (NG_) placements; per alternate allele and gene: gene symbol, NCBI GeneID, transcripts (MANE Select first, up to 10) with HGVS c., protein accession, HGVS p., one-letter amino-acid change and Sequence Ontology terms; allele counts and frequencies per study (gnomAD exomes and genomes, 1000 Genomes, TOPMed, ALFA total as dbGaP_PopFreq, ExAC and others) with a per-allele summary; ClinVar RCV records with significance, conditions and their MONDO/OMIM/MedGen IDs, review status and VCV accession (up to 25); OMIM and UniProt variant IDs; citing PMIDs (newest 100); and older rsIDs merged into it. A merged rsID is followed to its current RefSNP (status `merged`, with a warning); withdrawn, unsupported, locationless and unknown rsIDs are not_found with the reason. Positions are 1-based; SPDI strings keep NCBI's 0-based position. ## 1. Choose this provider when dbSNP, NCBI's database of human short genetic variants (build 157: 1.17 billion live RefSNPs), through the keyless NCBI Variation Services API. Read one RefSNP by rsID: its GRCh38 and GRCh37 chromosome positions (1-based) and alleles with SPDI and HGVS, RefSeqGene placement, the genes, MANE Select and RefSeq transcripts it hits with HGVS c./p., one-letter amino-acid change and Sequence Ontology consequences, allele frequencies from each contributing study (gnomAD, 1000 Genomes, TOPMed, ALFA and about 30 others), ClinVar significance with RCV and VCV accessions and MONDO/OMIM/MedGen condition IDs, and citing PubMed IDs. Or read ALFA allele counts and frequencies across its 12 populations. Merged rsIDs are followed; withdrawn, unsupported and unknown ones are not_found with the reason. NCBI places no restrictions on the data; every result carries attribution, the contributing studies and, for ALFA, NIH's genomic summary results terms. ## 2. Minimal request Call `POST https://api.firecrawl.dev/v2/scrape` with `{ alexandria: { provider, capability, options } }`. For a batch, send `{ alexandria: [...] }` with up to 10 calls. ```json { "provider": "snp-ncbi-nlm-nih-gov", "capability": "variants/frequency", "options": { "rsid": "rs429358" } } ``` ## 3. Add provider options Use only the options needed for the task: - `rsid` (string, required): dbSNP rsID: `rs429358`, `429358`, or a dbSNP page URL such as `https://www.ncbi.nlm.nih.gov/snp/rs429358`. HGVS, SPDI and gene names are not looked up. Example: `rs429358` ## 4. Request through your preferred interface ### JavaScript ```javascript const result = await firecrawl.scrape({ alexandria: { provider: "snp-ncbi-nlm-nih-gov", capability: "variants/frequency", options: { rsid: "rs429358", }, }, }); ``` ### Python ```python result = firecrawl.scrape_alexandria({ "provider": "snp-ncbi-nlm-nih-gov", "capability": "variants/frequency", "options": { "rsid": "rs429358" } }) ``` ### cURL ```sh curl https://api.firecrawl.dev/v2/scrape \ -H "Authorization: Bearer $FIRECRAWL_API_KEY" \ -H "Content-Type: application/json" \ -d '{ "alexandria": { "provider": "snp-ncbi-nlm-nih-gov", "capability": "variants/frequency", "options": { "rsid": "rs429358" } } }' ``` ### CLI ```sh firecrawl scrape 'snp-ncbi-nlm-nih-gov/variants/frequency' \ --options '{"rsid":"rs429358"}' ``` ### MCP Call the FCX MCP retrieve tool with this object: ```json { "provider": "snp-ncbi-nlm-nih-gov", "capability": "variants/frequency", "options": { "rsid": "rs429358" } } ``` Ask for only the returned fields needed by the task. ## 5. Full request shape ```json { "provider": "snp-ncbi-nlm-nih-gov", "capability": "variants/frequency", "options": { "rsid": "rs429358" } } ``` ## 6. Response data The response includes `success`, `provider`, `capability`, `creditsCost` and `data`. This example shows the provider payload in `data`: ```json { "alfa_build": "20260205170148", "alleles": [ "T", "C" ], "assembly": "GRCh38", "bioproject_id": "PRJNA507278", "intervals": [ { "length": 1, "position_key": "1@44908683", "reference": "T", "start": 44908684 } ], "license": { "attribution": "ALFA: Allele Frequency Aggregator (Phan L. et al.), release 20260205170148, National Center for Biotechnology Information, U.S. National Library of Medicine: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/ (rs429358: https://www.ncbi.nlm.nih.gov/snp/rs429358)", "gsr_notice": "ALFA frequencies are NIH genomic summary results from dbGaP studies. NIH expects them to be used responsibly: do not attempt to re-identify or contact any individual or group within a study population, or generate information that could allow participants' identities to be readily ascertained, and use them to promote scientific research or health. Terms: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/terms_of_use/", "name": "Public domain (NCBI)", "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/" }, "observed_at_ms": 1793396199006, "populations": [ { "alleles": [ { "allele": "T", "count": 337205, "frequency": 0.964556, "is_reference": true }, { "allele": "C", "count": 12391, "frequency": 0.0354438, "is_reference": false } ], "biosample_id": "SAMN10492705", "description": "Total (~global) across all populations", "group": "Global", "parent": null, "population": "Total", "position_key": "1@44908683", "total_count": 349596 }, { "alleles": [ { "allele": "T", "count": 264725, "frequency": 0.968816, "is_reference": true }, { "allele": "C", "count": 8521, "frequency": 0.0311844, "is_reference": false } ], "biosample_id": "SAMN10492695", "description": "European", "group": "Sub", "parent": "Total", "population": "European", "position_key": "1@44908683", "total_count": 273246 }, { "alleles": [ { "allele": "T", "count": 35487, "frequency": 0.947381, "is_reference": true }, { "allele": "C", "count": 1971, "frequency": 0.0526189, "is_reference": false } ], "biosample_id": "SAMN10492703", "description": "All Africans, AFO and AFA Individuals", "group": "Sub", "parent": "Total", "population": "African", "position_key": "1@44908683", "total_count": 37458 }, { "alleles": [ { "allele": "T", "count": 1324, "frequency": 0.95389, "is_reference": true }, { "allele": "C", "count": 64, "frequency": 0.0461095, "is_reference": false } ], "biosample_id": "SAMN10492696", "description": "Individuals with African ancestry", "group": "Sub", "parent": "African", "population": "African Others", "position_key": "1@44908683", "total_count": 1388 }, { "alleles": [ { "allele": "T", "count": 34163, "frequency": 0.947131, "is_reference": true }, { "allele": "C", "count": 1907, "frequency": 0.0528694, "is_reference": false } ], "biosample_id": "SAMN10492698", "description": "African American", "group": "Sub", "parent": "African", "population": "African American", "position_key": "1@44908683", "total_count": 36070 }, { "alleles": [ { "allele": "T", "count": 8741, "frequency": 0.969069, "is_reference": true }, { "allele": "C", "count": 279, "frequency": 0.0309313, "is_reference": false } ], "biosample_id": "SAMN10492704", "description": "Asian Individiuals excluding South Asian", "group": "Sub", "parent": "Total", "population": "Asian", "position_key": "1@44908683", "total_count": 9020 }, { "alleles": [ { "allele": "T", "count": 7047, "frequency": 0.973074, "is_reference": true }, { "allele": "C", "count": 195, "frequency": 0.0269263, "is_reference": false } ], "biosample_id": "SAMN10492697", "description": "East Asian (95%)", "group": "Sub", "parent": "Asian", "population": "East Asian", "position_key": "1@44908683", "total_count": 7242 }, { "alleles": [ { "allele": "T", "count": 1694, "frequency": 0.952756, "is_reference": true }, { "allele": "C", "count": 84, "frequency": 0.0472441, "is_reference": false } ], "biosample_id": "SAMN10492701", "description": "Asian Individiuals excluding South or East Asian", "group": "Sub", "parent": "Asian", "population": "Other Asian", "position_key": "1@44908683", "total_count": 1778 }, { "alleles": [ { "allele": "T", "count": 5644, "frequency": 0.959211, "is_reference": true }, { "allele": "C", "count": 240, "frequency": 0.0407886, "is_reference": false } ], "biosample_id": "SAMN10492699", "description": "Latin American individiuals with Afro-Caribbean ancestry", "group": "Sub", "parent": "Total", "population": "Latin American 1", "position_key": "1@44908683", "total_count": 5884 }, { "alleles": [ { "allele": "T", "count": 5956, "frequency": 0.964378, "is_reference": true }, { "allele": "C", "count": 220, "frequency": 0.0356218, "is_reference": false } ], "biosample_id": "SAMN10492700", "description": "Latin American individiuals with mostly European and Native American Ancestry", "group": "Sub", "parent": "Total", "population": "Latin American 2", "position_key": "1@44908683", "total_count": 6176 }, { "alleles": [ { "allele": "T", "count": 3345, "frequency": 0.977499, "is_reference": true }, { "allele": "C", "count": 77, "frequency": 0.0225015, "is_reference": false } ], "biosample_id": "SAMN10492702", "description": "South Asian", "group": "Sub", "parent": "Total", "population": "South Asian", "position_key": "1@44908683", "total_count": 3422 }, { "alleles": [ { "allele": "T", "count": 13307, "frequency": 0.924739, "is_reference": true }, { "allele": "C", "count": 1083, "frequency": 0.0752606, "is_reference": false } ], "biosample_id": "SAMN11605645", "description": "The self-reported population is inconsistent with the GRAF-assigned population", "group": "Sub", "parent": "Total", "population": "Other", "position_key": "1@44908683", "total_count": 14390 } ], "rsid": "rs429358", "source_url": "https://www.ncbi.nlm.nih.gov/snp/rs429358#frequency_tab", "study": "ALFA (Allele Frequency Aggregator)" } ``` ## API reference-derived contract The following capability contract is generated from the same normalized Alexandria API reference exposed in the API spec. ### Frequency - Capability: `variants/frequency` - Description: ALFA (NCBI's Allele Frequency Aggregator over open-access dbGaP studies) allele counts for one RefSNP by rsID, across its 12 populations: Total, European, African, African Others, African American, Asian, East Asian, Other Asian, Latin American 1, Latin American 2, South Asian and Other. Each population row has its BioSample ID, parent population, total chromosomes, and the count and frequency of every allele (reference first). Also returns the ALFA release, the GRCh38 interval the counts are keyed by (1-based start) and the alleles. A RefSNP ALFA has no counts for returns empty populations with a warning; merged rsIDs are not_found naming the current rsID to call; withdrawn, unsupported and unknown rsIDs are not_found with the reason. - Instructions: When you need how an allele's frequency differs between populations (European, African, Asian, Latin American, South Asian). `get` (variants/get) already has per-study frequencies (gnomAD, 1000 Genomes, TOPMed and ALFA's total) together with position, genes and ClinVar, so use this only for the population breakdown. Clinical significance comes from `get` or clinvar-ncbi-nlm-nih-gov; gene facts from gene-ncbi-nlm-nih-gov. - Cost: 5 credits per call - Capability file: [Frequency](https://firecrawl.dev/alexandria/agents/providers/snp-ncbi-nlm-nih-gov/variants/frequency) Accepted options: - `rsid` (string, required): dbSNP rsID: `rs429358`, `429358`, or a dbSNP page URL such as `https://www.ncbi.nlm.nih.gov/snp/rs429358`. HGVS, SPDI and gene names are not looked up. Example: `rs429358` Response schema example: ```json { "alfa_build": "20260205170148", "alleles": [ "T", "C" ], "assembly": "GRCh38", "bioproject_id": "PRJNA507278", "intervals": [ { "length": 1, "position_key": "1@44908683", "reference": "T", "start": 44908684 } ], "license": { "attribution": "ALFA: Allele Frequency Aggregator (Phan L. et al.), release 20260205170148, National Center for Biotechnology Information, U.S. National Library of Medicine: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/ (rs429358: https://www.ncbi.nlm.nih.gov/snp/rs429358)", "gsr_notice": "ALFA frequencies are NIH genomic summary results from dbGaP studies. NIH expects them to be used responsibly: do not attempt to re-identify or contact any individual or group within a study population, or generate information that could allow participants' identities to be readily ascertained, and use them to promote scientific research or health. Terms: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/terms_of_use/", "name": "Public domain (NCBI)", "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/" }, "observed_at_ms": 1793396199006, "populations": [ { "alleles": [ { "allele": "T", "count": 337205, "frequency": 0.964556, "is_reference": true }, { "allele": "C", "count": 12391, "frequency": 0.0354438, "is_reference": false } ], "biosample_id": "SAMN10492705", "description": "Total (~global) across all populations", "group": "Global", "parent": null, "population": "Total", "position_key": "1@44908683", "total_count": 349596 }, { "alleles": [ { "allele": "T", "count": 264725, "frequency": 0.968816, "is_reference": true }, { "allele": "C", "count": 8521, "frequency": 0.0311844, "is_reference": false } ], "biosample_id": "SAMN10492695", "description": "European", "group": "Sub", "parent": "Total", "population": "European", "position_key": "1@44908683", "total_count": 273246 }, { "alleles": [ { "allele": "T", "count": 35487, "frequency": 0.947381, "is_reference": true }, { "allele": "C", "count": 1971, "frequency": 0.0526189, "is_reference": false } ], "biosample_id": "SAMN10492703", "description": "All Africans, AFO and AFA Individuals", "group": "Sub", "parent": "Total", "population": "African", "position_key": "1@44908683", "total_count": 37458 }, { "alleles": [ { "allele": "T", "count": 1324, "frequency": 0.95389, "is_reference": true }, { "allele": "C", "count": 64, "frequency": 0.0461095, "is_reference": false } ], "biosample_id": "SAMN10492696", "description": "Individuals with African ancestry", "group": "Sub", "parent": "African", "population": "African Others", "position_key": "1@44908683", "total_count": 1388 }, { "alleles": [ { "allele": "T", "count": 34163, "frequency": 0.947131, "is_reference": true }, { "allele": "C", "count": 1907, "frequency": 0.0528694, "is_reference": false } ], "biosample_id": "SAMN10492698", "description": "African American", "group": "Sub", "parent": "African", "population": "African American", "position_key": "1@44908683", "total_count": 36070 }, { "alleles": [ { "allele": "T", "count": 8741, "frequency": 0.969069, "is_reference": true }, { "allele": "C", "count": 279, "frequency": 0.0309313, "is_reference": false } ], "biosample_id": "SAMN10492704", "description": "Asian Individiuals excluding South Asian", "group": "Sub", "parent": "Total", "population": "Asian", "position_key": "1@44908683", "total_count": 9020 }, { "alleles": [ { "allele": "T", "count": 7047, "frequency": 0.973074, "is_reference": true }, { "allele": "C", "count": 195, "frequency": 0.0269263, "is_reference": false } ], "biosample_id": "SAMN10492697", "description": "East Asian (95%)", "group": "Sub", "parent": "Asian", "population": "East Asian", "position_key": "1@44908683", "total_count": 7242 }, { "alleles": [ { "allele": "T", "count": 1694, "frequency": 0.952756, "is_reference": true }, { "allele": "C", "count": 84, "frequency": 0.0472441, "is_reference": false } ], "biosample_id": "SAMN10492701", "description": "Asian Individiuals excluding South or East Asian", "group": "Sub", "parent": "Asian", "population": "Other Asian", "position_key": "1@44908683", "total_count": 1778 }, { "alleles": [ { "allele": "T", "count": 5644, "frequency": 0.959211, "is_reference": true }, { "allele": "C", "count": 240, "frequency": 0.0407886, "is_reference": false } ], "biosample_id": "SAMN10492699", "description": "Latin American individiuals with Afro-Caribbean ancestry", "group": "Sub", "parent": "Total", "population": "Latin American 1", "position_key": "1@44908683", "total_count": 5884 }, { "alleles": [ { "allele": "T", "count": 5956, "frequency": 0.964378, "is_reference": true }, { "allele": "C", "count": 220, "frequency": 0.0356218, "is_reference": false } ], "biosample_id": "SAMN10492700", "description": "Latin American individiuals with mostly European and Native American Ancestry", "group": "Sub", "parent": "Total", "population": "Latin American 2", "position_key": "1@44908683", "total_count": 6176 }, { "alleles": [ { "allele": "T", "count": 3345, "frequency": 0.977499, "is_reference": true }, { "allele": "C", "count": 77, "frequency": 0.0225015, "is_reference": false } ], "biosample_id": "SAMN10492702", "description": "South Asian", "group": "Sub", "parent": "Total", "population": "South Asian", "position_key": "1@44908683", "total_count": 3422 }, { "alleles": [ { "allele": "T", "count": 13307, "frequency": 0.924739, "is_reference": true }, { "allele": "C", "count": 1083, "frequency": 0.0752606, "is_reference": false } ], "biosample_id": "SAMN11605645", "description": "The self-reported population is inconsistent with the GRAF-assigned population", "group": "Sub", "parent": "Total", "population": "Other", "position_key": "1@44908683", "total_count": 14390 } ], "rsid": "rs429358", "source_url": "https://www.ncbi.nlm.nih.gov/snp/rs429358#frequency_tab", "study": "ALFA (Allele Frequency Aggregator)" } ``` ### Get - Capability: `variants/get` - Description: One dbSNP RefSNP by rsID (`rs429358`, `429358`) or dbSNP page URL. Returns status, variant type, created/updated dates and build; reference and alternate alleles; GRCh38 and GRCh37 chromosome placements (chromosome, 1-based start and end, reference, SPDI and HGVS g. per allele) and RefSeqGene (NG_) placements; per alternate allele and gene: gene symbol, NCBI GeneID, transcripts (MANE Select first, up to 10) with HGVS c., protein accession, HGVS p., one-letter amino-acid change and Sequence Ontology terms; allele counts and frequencies per study (gnomAD exomes and genomes, 1000 Genomes, TOPMed, ALFA total as dbGaP_PopFreq, ExAC and others) with a per-allele summary; ClinVar RCV records with significance, conditions and their MONDO/OMIM/MedGen IDs, review status and VCV accession (up to 25); OMIM and UniProt variant IDs; citing PMIDs (newest 100); and older rsIDs merged into it. A merged rsID is followed to its current RefSNP (status `merged`, with a warning); withdrawn, unsupported, locationless and unknown rsIDs are not_found with the reason. Positions are 1-based; SPDI strings keep NCBI's 0-based position. - Instructions: Start here for any rsID: where the variant is, which gene, transcript and protein change it causes, how common each allele is per study, its ClinVar significance at a glance and its literature. For ALFA's breakdown across 12 populations use `frequency` (variants/frequency). For ClinVar's full assertions, submitters and evidence use clinvar-ncbi-nlm-nih-gov with the `vcv` returned here; for AlphaMissense pathogenicity predictions of a missense change use alphafold-ebi-ac-uk variants/missense with the gene and `amino_acid_change` of the MANE transcript; for the gene itself (function, transcripts, location, orthologs) use gene-ncbi-nlm-nih-gov with `gene_id`; for the citing papers pass `pmids` to pubmed-ncbi-nlm-nih-gov `summaries`. - Cost: 5 credits per call - Capability file: [Get](https://firecrawl.dev/alexandria/agents/providers/snp-ncbi-nlm-nih-gov/variants/get) Accepted options: - `rsid` (string, required): dbSNP rsID: `rs429358`, `429358`, or a dbSNP page URL such as `https://www.ncbi.nlm.nih.gov/snp/rs429358`. HGVS, SPDI and gene names are not looked up. Example: `rs429358` Response schema example: ```json { "alternate_alleles": [ "C" ], "chromosome": "19", "clinvar": [ { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "6703", "source": "Office of Rare Diseases" }, { "id": "MONDO:0018473", "source": "MONDO" }, { "id": "C0020479", "source": "MedGen" }, { "id": "617347", "source": "OMIM" } ], "conditions": [ "Familial type 3 hyperlipoproteinemia" ], "last_evaluated": "2023-06-08", "rcv": "RCV000019438.40", "review_status": "no_assertion_provided", "significances": [ "not_provided" ], "updated": "2024-07-29", "variation_id": 440870, "vcv": "VCV000440870" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "9467", "source": "Office of Rare Diseases" }, { "id": "12799", "source": "Office of Rare Diseases" }, { "id": "MONDO:0007089", "source": "MONDO" }, { "id": "C1863051", "source": "MedGen" }, { "id": "1020", "source": "Orphanet" }, { "id": "104310", "source": "OMIM" } ], "conditions": [ "Alzheimer disease 2" ], "last_evaluated": "2022-06-27", "rcv": "RCV000019448.48", "review_status": "no_assertion_criteria_provided", "significances": [ "pathogenic_established_risk_allele" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "6703", "source": "Office of Rare Diseases" }, { "id": "MONDO:0018473", "source": "MONDO" }, { "id": "C0020479", "source": "MedGen" }, { "id": "617347", "source": "OMIM" } ], "conditions": [ "Familial type 3 hyperlipoproteinemia" ], "last_evaluated": "1993-05-01", "rcv": "RCV000019455.41", "review_status": "no_assertion_criteria_provided", "significances": [ "pathogenic" ], "updated": "2024-07-29", "variation_id": 441267, "vcv": "VCV000441267" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [], "conditions": [ "APOE4(-)-FREIBURG" ], "last_evaluated": "2017-02-15", "rcv": "RCV000019456.38", "review_status": "no_assertion_criteria_provided", "significances": [ "pathogenic" ], "updated": "2024-07-29", "variation_id": 441268, "vcv": "VCV000441268" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "C4479660", "source": "MedGen" } ], "conditions": [ "APOE5 VARIANT" ], "last_evaluated": "2019-11-22", "rcv": "RCV000019458.36", "review_status": "no_assertion_criteria_provided", "significances": [ "association" ], "updated": "2024-07-29", "variation_id": 441269, "vcv": "VCV000441269" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "C3661900", "source": "MedGen" } ], "conditions": [ "not provided" ], "last_evaluated": "2022-10-01", "rcv": "RCV000292119.28", "review_status": "criteria_provided_conflicting_interpretations", "significances": [ "conflicting_interpretations_of_pathogenicity", "other", "risk_factor" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "CN169374", "source": "MedGen" } ], "conditions": [ "not specified" ], "last_evaluated": "2019-01-18", "rcv": "RCV000825286.13", "review_status": "criteria_provided_single_submitter", "significances": [ "uncertain_significance" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "C5779573", "source": "MedGen" } ], "conditions": [ "Primary degenerative dementia of the Alzheimer type, presenile onset" ], "last_evaluated": "2019-01-16", "rcv": "RCV000826089.12", "review_status": "criteria_provided_single_submitter", "significances": [ "risk_factor" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "PA451906", "source": "PharmGKB" }, { "id": "MONDO:0007390", "source": "MONDO" }, { "id": "C0750384", "source": "MedGen" }, { "id": "122700", "source": "OMIM" } ], "conditions": [ "Warfarin response" ], "last_evaluated": "2010-08-31", "rcv": "RCV000845581.10", "review_status": "no_assertion_criteria_provided", "significances": [ "drug_response" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "632", "source": "Office of Rare Diseases" }, { "id": "MONDO:0004975", "source": "MONDO" }, { "id": "D000544", "source": "MeSH" }, { "id": "C0002395", "source": "MedGen" }, { "id": "1020", "source": "Orphanet" }, { "id": "HP:0002511", "source": "Human Phenotype Ontology" }, { "id": "HP:0006878", "source": "Human Phenotype Ontology" }, { "id": "HP:0007213", "source": "Human Phenotype Ontology" } ], "conditions": [ "Alzheimer disease" ], "last_evaluated": "2019-06-27", "rcv": "RCV000991302.11", "review_status": "criteria_provided_single_submitter", "significances": [ "likely_pathogenic" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "NBK174884", "source": "GeneReviews" }, { "id": "MONDO:0005439", "source": "MONDO" }, { "id": "C0020445", "source": "MedGen" }, { "id": "PS143890", "source": "OMIM" } ], "conditions": [ "Familial hypercholesterolemia" ], "last_evaluated": "2020-05-27", "rcv": "RCV001175124.10", "review_status": "no_assertion_criteria_provided", "significances": [ "likely_pathogenic" ], "updated": "2024-07-29", "variation_id": 441268, "vcv": "VCV000441268" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "9469", "source": "Office of Rare Diseases" }, { "id": "16511", "source": "Office of Rare Diseases" }, { "id": "MONDO:0011743", "source": "MONDO" }, { "id": "C1847200", "source": "MedGen" }, { "id": "1020", "source": "Orphanet" }, { "id": "606889", "source": "OMIM" } ], "conditions": [ "Alzheimer disease 4" ], "last_evaluated": "2020-03-24", "rcv": "RCV001195807.10", "review_status": "criteria_provided_single_submitter", "significances": [ "pathogenic" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "C", "clinvar_allele_id": 32903, "condition_ids": [ { "id": "17504", "source": "Office of Rare Diseases" }, { "id": "MONDO:0012725", "source": "MONDO" }, { "id": "C2673196", "source": "MedGen" }, { "id": "329481", "source": "Orphanet" }, { "id": "611771", "source": "OMIM" } ], "conditions": [ "Lipoprotein glomerulopathy" ], "last_evaluated": "2019-01-01", "rcv": "RCV001262791.9", "review_status": "criteria_provided_single_submitter", "significances": [ "uncertain_significance" ], "updated": "2024-07-29", "variation_id": 17864, "vcv": "VCV000017864" }, { "allele": "T", "clinvar_allele_id": 682795, "condition_ids": [], "conditions": [ "APOE3 ISOFORM" ], "last_evaluated": "1981-09-10", "rcv": "RCV000019447.32", "review_status": "no_assertion_criteria_provided", "significances": [ "pathogenic" ], "updated": "2024-06-02", "variation_id": 17863, "vcv": "VCV000017863" }, { "allele": "T", "clinvar_allele_id": 682795, "condition_ids": [], "conditions": [ "Alzheimer disease 3, protection against, due to APOE3-Christchurch" ], "last_evaluated": "2019-11-25", "rcv": "RCV000856604.4", "review_status": "no_assertion_criteria_provided", "significances": [ "protective" ], "updated": "2024-06-02", "variation_id": 694585, "vcv": "VCV000694585" } ], "clinvar_count": 15, "clinvar_summary": [ { "allele": "C", "rcv_count": 13, "significances": [ "not_provided", "pathogenic_established_risk_allele", "pathogenic", "association", "conflicting_interpretations_of_pathogenicity", "other", "risk_factor", "uncertain_significance", "drug_response", "likely_pathogenic" ], "vcvs": [ "VCV000440870", "VCV000017864", "VCV000441267", "VCV000441268", "VCV000441269" ] }, { "allele": "T", "rcv_count": 2, "significances": [ "pathogenic", "protective" ], "vcvs": [ "VCV000017863", "VCV000694585" ] } ], "consequences": [ { "allele": "C", "annotation_release": "Homo sapiens Annotation Release 110", "gene_id": 348, "gene_name": "apolipoprotein E", "gene_so_terms": [], "gene_symbol": "APOE", "orientation": "plus", "pseudogene": false, "transcript_count": 5, "transcripts": [ { "amino_acid_change": "C130R", "hgvs": "NM_000041.4:c.388T>C", "mane_select": true, "protein": "NP_000032.1", "protein_change": "p.Cys130Arg", "protein_hgvs": "NP_000032.1:p.Cys130Arg", "protein_so_terms": [ "missense_variant" ], "so_terms": [ "coding_sequence_variant" ], "transcript": "NM_000041.4" }, { "amino_acid_change": "C156R", "hgvs": "NM_001302688.2:c.466T>C", "mane_select": false, "protein": "NP_001289617.1", "protein_change": "p.Cys156Arg", "protein_hgvs": "NP_001289617.1:p.Cys156Arg", "protein_so_terms": [ "missense_variant" ], "so_terms": [ "coding_sequence_variant" ], "transcript": "NM_001302688.2" }, { "amino_acid_change": "C130R", "hgvs": "NM_001302689.2:c.388T>C", "mane_select": false, "protein": "NP_001289618.1", "protein_change": "p.Cys130Arg", "protein_hgvs": "NP_001289618.1:p.Cys130Arg", "protein_so_terms": [ "missense_variant" ], "so_terms": [ "coding_sequence_variant" ], "transcript": "NM_001302689.2" }, { "amino_acid_change": "C130R", "hgvs": "NM_001302690.2:c.388T>C", "mane_select": false, "protein": "NP_001289619.1", "protein_change": "p.Cys130Arg", "protein_hgvs": "NP_001289619.1:p.Cys130Arg", "protein_so_terms": [ "missense_variant" ], "so_terms": [ "coding_sequence_variant" ], "transcript": "NM_001302690.2" }, { "amino_acid_change": "C130R", "hgvs": "NM_001302691.2:c.388T>C", "mane_select": false, "protein": "NP_001289620.1", "protein_change": "p.Cys130Arg", "protein_hgvs": "NP_001289620.1:p.Cys130Arg", "protein_so_terms": [ "missense_variant" ], "so_terms": [ "coding_sequence_variant" ], "transcript": "NM_001302691.2" } ] } ], "coordinates": "start, end, position_grch38 and position_grch37 are 1-based and inclusive (SPDI position + 1, the VCF POS whenever reference and allele are both non-empty); spdi strings keep NCBI's 0-based SPDI position.", "created": "2000-07-17", "frequencies": [ { "allele": "C", "allele_count": 754, "frequency": 0.150559, "study": "1000Genomes", "total_count": 5008 }, { "allele": "C", "allele_count": 968, "frequency": 0.151156, "study": "1000Genomes_30X", "total_count": 6404 }, { "allele": "C", "allele_count": 593, "frequency": 0.153866, "study": "ALSPAC", "total_count": 3854 }, { "allele": "C", "allele_count": 558, "frequency": 0.124554, "study": "Estonian", "total_count": 4480 }, { "allele": "C", "allele_count": 5332, "frequency": 0.184332, "study": "ExAC", "total_count": 28926 }, { "allele": "C", "allele_count": 9, "frequency": 0.225, "study": "GENOME_DK", "total_count": 40 }, { "allele": "C", "allele_count": 200760, "frequency": 0.147929, "study": "GnomAD_exomes", "total_count": 1357140 }, { "allele": "C", "allele_count": 23566, "frequency": 0.158091, "study": "GnomAD_genomes", "total_count": 149066 }, { "allele": "C", "allele_count": 3, "frequency": 0.0144231, "study": "HapMap", "total_count": 208 }, { "allele": "C", "allele_count": 268, "frequency": 0.091718, "study": "KOREAN", "total_count": 2922 }, { "allele": "C", "allele_count": 170, "frequency": 0.095613, "study": "Korea1K", "total_count": 1778 }, { "allele": "C", "allele_count": 653, "frequency": 0.0909724, "study": "Korea4K", "total_count": 7178 }, { "allele": "C", "allele_count": 89, "frequency": 0.148333, "study": "NorthernSweden", "total_count": 600 }, { "allele": "C", "allele_count": 0, "frequency": 0, "study": "PAGE_STUDY", "total_count": 78676 }, { "allele": "C", "allele_count": 2, "frequency": 0.166667, "study": "PRJEB36033", "total_count": 12 }, { "allele": "C", "allele_count": 23, "frequency": 0.106481, "study": "Qatari", "total_count": 216 }, { "allele": "C", "allele_count": 84, "frequency": 0.531646, "study": "SGDP_PRJ", "total_count": 158 }, { "allele": "C", "allele_count": 3, "frequency": 0.75, "study": "Siberian", "total_count": 4 }, { "allele": "C", "allele_count": 8030, "frequency": 0.103704, "study": "TOMMO", "total_count": 77432 }, { "allele": "C", "allele_count": 41110, "frequency": 0.155314, "study": "TOPMED", "total_count": 264690 }, { "allele": "C", "allele_count": 518, "frequency": 0.139698, "study": "TWINSUK", "total_count": 3708 }, { "allele": "C", "allele_count": 7517, "frequency": 0.0744184, "study": "dbGaP_PopFreq", "total_count": 101010 } ], "frequency_summary": [ { "allele": "C", "largest_study": "GnomAD_exomes", "largest_study_frequency": 0.147929, "largest_study_total": 1357140, "max_frequency": 0.75, "max_study": "Siberian", "min_frequency": 0, "min_study": "PAGE_STUDY", "study_count": 22 } ], "last_update_build": "157", "license": { "attribution": "Data from dbSNP (rs429358), National Center for Biotechnology Information, U.S. National Library of Medicine: https://www.ncbi.nlm.nih.gov/snp/rs429358", "frequency_note": "Allele frequencies belong to the studies that submitted them to dbSNP; credit the study named on each row (1000Genomes, 1000Genomes_30X, ALSPAC, Estonian, ExAC, GENOME_DK, GnomAD_exomes, GnomAD_genomes, HapMap, KOREAN, Korea1K, Korea4K, NorthernSweden, PAGE_STUDY, PRJEB36033, Qatari, SGDP_PRJ, Siberian, TOMMO, TOPMED, TWINSUK, dbGaP_PopFreq). dbGaP_PopFreq is NCBI's ALFA (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/). This tool includes data from the gnomAD v4 release (https://gnomad.broadinstitute.org/); gnomAD releases it under CC0 and asks users to acknowledge gnomAD and link back to it.", "gsr_notice": "ALFA frequencies are NIH genomic summary results from dbGaP studies. NIH expects them to be used responsibly: do not attempt to re-identify or contact any individual or group within a study population, or generate information that could allow participants' identities to be readily ascertained, and use them to promote scientific research or health. Terms: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/terms_of_use/", "name": "Public domain (NCBI)", "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/" }, "merged_from": null, "merged_rsids": [ { "build": "85", "date": "2000-09-19", "rsid": "rs630496" }, { "build": "130", "date": "2008-05-26", "rsid": "rs61228756" } ], "observed_at_ms": 1793396193094, "placements": [ { "alleles": [ { "allele": "C", "hgvs": "NC_000019.10:g.44908684T>C", "spdi": "NC_000019.10:44908683:T:C" } ], "assemblies": [ "GRCh38.p14" ], "chromosome": "19", "end": 44908684, "is_ptlp": true, "kind": "chromosome", "mismatch": false, "reference": "T", "seq_id": "NC_000019.10", "start": 44908684 }, { "alleles": [ { "allele": "C", "hgvs": "NC_000019.9:g.45411941T>C", "spdi": "NC_000019.9:45411940:T:C" } ], "assemblies": [ "GRCh37.p13" ], "chromosome": "19", "end": 45411941, "is_ptlp": false, "kind": "chromosome", "mismatch": false, "reference": "T", "seq_id": "NC_000019.9", "start": 45411941 }, { "alleles": [ { "allele": "C", "hgvs": "NG_007084.2:g.7903T>C", "spdi": "NG_007084.2:7902:T:C" } ], "assemblies": [], "chromosome": null, "end": 7903, "is_ptlp": false, "kind": "refseqgene", "mismatch": false, "reference": "T", "seq_id": "NG_007084.2", "start": 7903 } ], "pmid_count": 507, "pmids": [ 38488402, 38488328, 38487739, 38003007, 37185708, 36829875, 36776603, 36362067, 36333282, 36330582, 36309404, 36276968, 36158751, 36151568, 36145636, 36082566, 36041056, 36011277, 35990035, 35987511, 35892323, 35886016, 35809216, 35793369, 35723376, 35719839, 35710974, 35647761, 35641666, 35575245, 35547337, 35537244, 35499926, 35461270, 35415203, 35393538, 35387194, 35384166, 35351696, 35351068, 35347084, 35332187, 35301180, 35259553, 35241926, 35193914, 35135450, 35124466, 35124268, 35088019, 34971190, 34958284, 34958182, 34930329, 34817242, 34805411, 34782536, 34760029, 34686405, 34681041, 34616421, 34596727, 34587962, 34535985, 34480683, 34422007, 34421081, 34339344, 34328600, 34313350, 34276231, 34258927, 34137427, 34119372, 34087973, 34038024, 34034613, 33970751, 33941312, 33864613, 33815092, 33763108, 33730676, 33663605, 33659002, 33547301, 33467888, 33347879, 33320170, 33287609, 33285739, 33223668, 33210016, 33163038, 33111402, 33059023, 33057949, 32985495, 32924542, 32914893 ], "position_grch37": 45411941, "position_grch38": 44908684, "reference_allele": "T", "requested_rsid": "rs429358", "rsid": "rs429358", "source_url": "https://www.ncbi.nlm.nih.gov/snp/rs429358", "status": "live", "submission_count": 245, "truncated": [ "pmids" ], "updated": "2024-11-02", "variant_type": "snv", "variant_xrefs": [ { "id": "P02649#VAR_000652", "source": "UniProtKB" }, { "id": "107741.0008", "source": "OMIM" }, { "id": "107741.0016", "source": "OMIM" }, { "id": "107741.0022", "source": "OMIM" }, { "id": "107741.0023", "source": "OMIM" }, { "id": "107741.0025", "source": "OMIM" }, { "id": "107741.0015", "source": "OMIM" } ] } ```