rs782663655
A SNP in the KDM5C gene on chromosome X. Its most notable genotype is G;G: common in clinvar
- Gene
- KDM5C
- Location
- Chr X53,194,297 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
aka c.3880C>T (p.Gln1294Ter or Q1294X), but note also c.3880C>A (p.Gln1294Lys); the former is "interpreted as pathogenic" in ClinVar whereas the latter is not annotated. Although not specifically named in ClinVar in association with this mutation, the condition associated with this type of mutation in the KDM5C gene is a syndromic form of X-linked mental retardation, known as Claes-Jensen type. Note that Ancestry (v2c) DNA chips appear to incorrectly report a (heterozygous) miscall for males (and possibly females) with high frequency for this SNP. Since this is a SNP on the X-chromosome, of which males only have one copy, males are unlikely to actually be heterozygotes.
Source and license
Adapted from rs782663655 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.