rs137853022

A SNP in the IKBKAP gene on chromosome 9. Its most notable genotype is G;G: Familial dysautonomia

Gene
IKBKAP
Location
Chr 9108,900,303 (GRCh38)
Highest magnitude
7.7Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadFamilial dysautonomiaVery important · 7.7
  2. C;GBadcarrier of familial dysautonomia mutationImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs137853022 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other IKBKAP SNPs

All IKBKAP SNPs

Notes

From SNPedia

Notes

rs137853022, also known as R696P or Arg696Pro, is a SNP in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein IKBKAP gene. This is reported as one of two mutations accounting for 99% of the cases of familial dysautonomia in Ashkenazi Jews; in 23andMe, it is reported as i4000400. Be aware of strand flipping issues in how this SNP is reported.

G;G

see discussion at rs137853022

C;G

Unaffected in absence of another mutation in the IKBKAP gene; see discussion at familial dysautonomia

Source and license

Adapted from rs137853022 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.