rs62637014

A SNP in the AIPL1 gene on chromosome 17. Its most notable genotype is C;T: Carrier of a Leber congenital amaurosis mutation

Gene
AIPL1
Location
Chr 176,425,781 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
0%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of a Leber congenital amaurosis mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs62637014 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other AIPL1 SNPs

All AIPL1 SNPs

Notes

From SNPedia

Notes

aka c.834G>A (p.Trp278Ter or W278X) This recessively inherited mutation is considered the most common AIPL1 variant leading to Leber congenital amaurosis type 4 (LCA4).

C;T

Unaffected in absence of a second AIPL1 gene mutation

Source and license

Adapted from rs62637014 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.