rs28939712

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

Gene
IKBKAP
Location
Chr 9108,894,062 (GRCh38)
Highest magnitude
7.7Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadcarrier of familial dysautonomia mutationImportant · 3.0
  3. A;AMost notableBadFamilial dysautonomiaVery important · 7.7

SNPedia records rs28939712 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

aka c.2741C>T, p.Pro914Leu, P914L

A;G

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

A;A

see discussion at familial dysautonomia

Source and license

Adapted from rs28939712 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.