rs111033171

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

Gene
IKBKAP
Location
Chr 9108,899,816 (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. A;GBadcarrier of familial dysautonomia mutationImportant · 3.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs111033171 on the minus strand: (C;C), (C;T), (T;T). 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

rs111033171, also known as IVS20_6T>C, IVS20(+6T->C), and c.2204+6T>C, 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 whom the carrier rate (1 in 32) is similar to Tay–Sachs disease and cystic fibrosis. In 23andMe data, rs111033171 appears to be reported as i4000334. Be aware of strand flipping issues in how this SNP is reported.

G;G

see discussion at rs111033171

Source and license

Adapted from rs111033171 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.