rs121918165

A SNP in the LCA5 gene on chromosome 6. Its most notable genotype is A;G: Carrier of a Leber congenital amaurosis mutation

Gene
LCA5
Location
Chr 679,493,636 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadCarrier of a Leber congenital amaurosis mutationImportant · 3.0

SNPedia records rs121918165 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.835C>T (p.Gln279Ter or Q279X)

A;G

Unaffected in absence of a second LCA5 gene mutation

Source and license

Adapted from rs121918165 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.