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rs111033171

From SNPedia

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


Make rs111033171(C;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position108899816
GeneIKBKAP
is asnp
is mentioned by
dbSNPrs111033171
ebirs111033171
HLIrs111033171
Exacrs111033171
Varsomers111033171
Maprs111033171
PheGenIrs111033171
hapmaprs111033171
1000 genomesrs111033171
hgdprs111033171
ensemblrs111033171
gopubmedrs111033171
geneviewrs111033171
scholarrs111033171
googlers111033171
pharmgkbrs111033171
gwascentralrs111033171
openSNPrs111033171
23andMers111033171
23andMe allrs111033171
SNP Nexus

SNPshotrs111033171
SNPdbers111033171
MSV3drs111033171
GWAS Ctlgrs111033171
Max Magnitude3

rs111033171, also known as IVS20_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 23andMe, it is reported as i4000334. Be aware of strand flipping issues in how this SNP is reported.

OMIM603722
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111033171(C;C)
Alt rs111033171(C;C)
Reference rs111033171(T;T)
Significance Pathogenic
Disease Familial dysautonomia not provided
Variation info
Gene IKBKAP
CLNDBN Familial dysautonomia not provided
Reversed 1
HGVS NC_000009.11:g.111662096A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006458.5, RCV000058928.1,