rs28938473
A SNP in the ABCA4 gene on chromosome 1. Its most notable genotype is A;A: Fundus flavimaculatus, a type of Stargardt disease, likely
- Gene
- ABCA4
- Location
- Chr 194,007,731 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadCarrier of a mutation for a type of Stargardt disease
- A;AMost notableBadFundus flavimaculatus, a type of Stargardt disease, likely
SNPedia records rs28938473 on the minus strand: (C;C), (C;T), (T;T). 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
- rs76157638G;GStargardt diseaseVery 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
Show notes, about 120 words
rs28938473, also known as c.5908C>T, p.Leu1970Phe and L1970F, represents a rare mutation in the ABCA4 gene on chromosome 1. Although there are disagreements in ClinVar about whether this is a benign variant, the majority of reports consider the minor allele (when inherited recessively) to be pathogenic for a subtype of Stargardt disease known as Fundus flavimaculatus.
A;G
Unaffected in absence of another pathogenic mutation in the ABCA4 gene; the minor allele in this genotype is reported as pathogenic for Fundus flavimaculatus, a type of Stargardt disease.
A;A
This genotype is reported as pathogenic for Fundus flavimaculatus, a type of Stargardt disease (with a later age of onset than classical Stargardt). See links at rs28938473.
Source and license
Adapted from rs28938473 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.