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rs137853328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853328(G;G)
Make rs137853328(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154558590
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853328
dbSNP (classic)rs137853328
ClinGenrs137853328
ebirs137853328
HLIrs137853328
Exacrs137853328
Gnomadrs137853328
Varsomers137853328
LitVarrs137853328
Maprs137853328
PheGenIrs137853328
Biobankrs137853328
1000 genomesrs137853328
hgdprs137853328
ensemblrs137853328
geneviewrs137853328
scholarrs137853328
googlers137853328
pharmgkbrs137853328
gwascentralrs137853328
openSNPrs137853328
23andMers137853328
SNPshotrs137853328
SNPdbers137853328
MSV3drs137853328
GWAS Ctlgrs137853328
Max Magnitude0
OMIM300248
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137853328(G;G)
Alt rs137853328(G;G)
Reference Rs137853328(T;T)
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.153786805T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012215.20,