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rs137853329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853329(C;T)
Make rs137853329(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154564408
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853329
ebirs137853329
HLIrs137853329
Exacrs137853329
Varsomers137853329
Maprs137853329
PheGenIrs137853329
hapmaprs137853329
1000 genomesrs137853329
hgdprs137853329
ensemblrs137853329
gopubmedrs137853329
geneviewrs137853329
scholarrs137853329
googlers137853329
pharmgkbrs137853329
gwascentralrs137853329
openSNPrs137853329
23andMers137853329
23andMe allrs137853329
SNP Nexus

SNPshotrs137853329
SNPdbers137853329
MSV3drs137853329
GWAS Ctlgrs137853329
Max Magnitude0
OMIM300248
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137853329(T;T)
Alt rs137853329(T;T)
Reference rs137853329(C;C)
Significance Pathogenic
Disease Hypohidrotic ectodermal dysplasia with immune deficiency
Variation info
Gene IKBKG
CLNDBN Hypohidrotic ectodermal dysplasia with immune deficiency
Reversed 0
HGVS NC_000023.10:g.153792623C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012216.20,