rs61748520
A SNP in the ABCA4 gene on chromosome 1. Its most notable genotype is C;T: Carrier of a mutation for Stargardt disease
- Gene
- ABCA4
- Location
- Chr 194,001,046 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TBadStargardt disease
- C;TMost notableBadCarrier of a mutation for Stargardt disease
- C;CGoodcommon in clinvar
SNPedia records rs61748520 on the minus strand: (A;A), (A;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
- 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
rs61748520, also known as c.6342G>A, is a rare intronic variant in the ABCA4 gene on chromosome 1. While most known mutations associated with Stargardt disease are in the coding regions, rs61748520(A) is intronic, although still recessive. In one study, this variant was found in 16 patients, all of whom presented with typical features of ABCA4 retinopathy, presumably representing a significant portion of disease alleles for Stargardt disease.
T;T
see rs61748520
C;T
Unaffected in absence of another pathogenic ABCA4 gene mutation; see rs61748520
Source and license
Adapted from rs61748520 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.