rs1801269
A SNP in the ABCA4 gene on chromosome 1. Its most notable genotype is A;C: Carrier of a mutation for Stargardt disease
- Gene
- ABCA4
- Location
- Chr 194,041,345 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CMost notableBadCarrier of a mutation for Stargardt disease
SNPedia records rs1801269 on the minus strand: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ABCA4 SNPs
- rs41292677G;GStargardt diseaseVery important
- 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
Notes
From SNPedia
Notes
A;C
Unaffected in absence of another pathogenic ABCA4 gene mutation
Source and license
Adapted from rs1801269 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.