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rs137853022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 carrier of familial dysautonomia mutation
(G;G) 0 common in clinvar


Make rs137853022(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position108900303
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs137853022
ebirs137853022
HLIrs137853022
Exacrs137853022
Varsomers137853022
Maprs137853022
PheGenIrs137853022
hapmaprs137853022
1000 genomesrs137853022
hgdprs137853022
ensemblrs137853022
gopubmedrs137853022
geneviewrs137853022
scholarrs137853022
googlers137853022
pharmgkbrs137853022
gwascentralrs137853022
openSNPrs137853022
23andMers137853022
23andMe allrs137853022
SNP Nexus

SNPshotrs137853022
SNPdbers137853022
MSV3drs137853022
GWAS Ctlgrs137853022
Max Magnitude3

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.

OMIM603722
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853022(A,C;A,C)
Alt rs137853022(A,C;A,C)
Reference rs137853022(G;G)
Significance Pathogenic
Disease Familial dysautonomia
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia
Reversed 1
HGVS NC_000009.11:g.111662583C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006459.2,