rs863223990
A SNP in the FH gene on chromosome 1. Its most notable genotype is -;ATGA: Hereditary leiomyomatosis and renal cell cancer
- Gene
- FH
- Location
- Chr 1241,500,475 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ATGAMost notableBadHereditary leiomyomatosis and renal cell cancer
- ATGA;ATGAGoodcommon in clinvar
On SNPedia: (-;ATGA), (ATGA;ATGA). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other FH SNPs
- rs367543046AAA;AAAFumarase deficiency (predicted)Very important
- rs75086406C;GAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs121913120A;GHereditary leiomyomatosis and renal cell cancerVery important
- rs121913121G;TAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs121913122A;GHereditary leiomyomatosis and renal cell cancerVery important
- rs121913123C;TAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs387906546G;TAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs398123160A;GHereditary leiomyomatosis and renal cell cancerVery important
Notes
From SNPedia
Notes
aka c.1345_1348dupATGA as well as c.1345_1348delATGA; both are considered pathogenic in ClinVar for hereditary cancer predisposing syndrome
Source and license
Adapted from rs863223990 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.