rs1047376
A SNP in the ABCA4 gene on chromosome 1. Its most notable genotype is A;G: Carrier of a mutation for Stargardt disease
- Gene
- ABCA4
- Location
- Chr 194,041,354 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1047376 on the minus strand: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;G 0% A;A 100%
- European ancestry (Utah)A;G 0% A;A 100%
- Han Chinese (Beijing)A;G 0% A;A 100%
- Japanese (Tokyo)A;G 0% A;A 100%
- Yoruba (Nigeria)A;G 0% A;A 100%
Related
Other ABCA4 SNPs
- rs41292677G;GStargardt diseaseVery important
- rs76157638G;GStargardt diseaseVery important
- rs28938473A;AFundus flavimaculatus, a type of Stargardt disease, likelyVery important
- 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
A;G
Unaffected in absence of another pathogenic ABCA4 gene mutation
Source and license
Adapted from rs1047376 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.