rs866982675

A SNP in the IQCB1 gene on chromosome 3. Its most notable genotype is A;A: Senior-Loken syndrome

Gene
IQCB1
Location
Chr 3121,781,790 (GRCh38)
Highest magnitude
5.5Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadSenior-Loken syndromeVery important · 5.5
  2. A;GBadCarrier of a Senior-Loken syndrome mutationImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other IQCB1 SNPs

All IQCB1 SNPs

Notes

From SNPedia

Notes

rs866982675, also known as c.1363C>T, p.Arg246X or R246X, represents a rare variant in the IQCB1 gene on chromosome 3. The minor allele is reported in BabySeq as pathogenic for recessively inherited Senior-Loken syndrome, type 5; it will presumably reflect as pathogenic eventually in ClinVar as well.

A;A

see rs866982675

A;G

Unaffected in absence of another pathogenic IQCB1 gene mutation; see rs866982675

Source and license

Adapted from rs866982675 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.