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rs137853325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853325(C;C)
Make rs137853325(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154564450
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853325
ebirs137853325
HLIrs137853325
Exacrs137853325
Varsomers137853325
Maprs137853325
PheGenIrs137853325
hapmaprs137853325
1000 genomesrs137853325
hgdprs137853325
ensemblrs137853325
gopubmedrs137853325
geneviewrs137853325
scholarrs137853325
googlers137853325
pharmgkbrs137853325
gwascentralrs137853325
openSNPrs137853325
23andMers137853325
23andMe allrs137853325
SNP Nexus

SNPshotrs137853325
SNPdbers137853325
MSV3drs137853325
GWAS Ctlgrs137853325
Max Magnitude0
OMIM300248
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853325(C;C)
Alt rs137853325(C;C)
Reference rs137853325(T;T)
Significance Pathogenic
Disease Hypohidrotic ectodermal dysplasia with immune deficiency Hyper-IgM immunodeficiency
Variation info
Gene IKBKG
CLNDBN Hypohidrotic ectodermal dysplasia with immune deficiency Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.153792665T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012207.11, RCV000012208.11,