rs76157638
A SNP in the ABCA4 gene on chromosome 1. Its most notable genotype is G;G: Stargardt disease
- Gene
- ABCA4
- Location
- Chr 194,051,698 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GBadCarrier of a mutation for Stargardt disease
- G;GMost notableBadStargardt disease
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ABCA4 SNPs
- rs41292677G;GStargardt diseaseVery important
- rs28938473A;AFundus flavimaculatus, a type of Stargardt disease, likelyVery important
- rs1047376A;GCarrier of a mutation for Stargardt diseaseImportant
- rs1762111A;GCarrier of a mutation for Stargardt diseaseImportant
- rs1800552C;TCarrier of a mutation for Stargardt diseaseImportant
- rs1800553C;TCarrier of a mutation for Stargardt diseaseImportant
- rs1800728A;GCarrier of a mutation for Stargardt diseaseImportant
- rs1801269A;CCarrier of a mutation for Stargardt diseaseImportant
Notes
From SNPedia
Notes
rs76157638, also known as c.2588G>C, p.Gly863Ala and G863A, represents a rare mutation in the ABCA4 gene on chromosome 1. Inherited recessively, the rs76157638(G) allele - as designated in dbSNP orientation - is considered pathogenic for Stargardt disease in ClinVar (and also BabySeq).
C;G
Unaffected in absence of another pathogenic ABCA4 gene mutation; see rs76157638
G;G
see rs76157638
Source and license
Adapted from rs76157638 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.