rs41292677
A SNP in the ABCA4 gene on chromosome 1. Its most notable genotype is G;G: Stargardt disease
- Gene
- ABCA4
- Location
- Chr 194,001,992 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in complete genomics
- 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
Other ABCA4 SNPs
- rs76157638G;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
aka c.6148G>C, p.Val2050Leu or V2050L; in at least one earlier publication, referred to as V2012L (p.Val2012Leu) On it's own, the pathogenicity of this variant is questioned by several submitters to ClinVar, as is it's linked co-variant, rs61751406, in a haplotype also listed in ClinVar.
C;G
Unaffected in absence of another pathogenic ABCA4 gene mutation
G;G
see ABCA4; beware of ambiguous flip possibility though
Source and license
Adapted from rs41292677 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.