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rs137853330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853330(C;G)
Make rs137853330(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154562904
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853330
ebirs137853330
HLIrs137853330
Exacrs137853330
Varsomers137853330
Maprs137853330
PheGenIrs137853330
hapmaprs137853330
1000 genomesrs137853330
hgdprs137853330
ensemblrs137853330
gopubmedrs137853330
geneviewrs137853330
scholarrs137853330
googlers137853330
pharmgkbrs137853330
gwascentralrs137853330
openSNPrs137853330
23andMers137853330
23andMe allrs137853330
SNP Nexus

SNPshotrs137853330
SNPdbers137853330
MSV3drs137853330
GWAS Ctlgrs137853330
Max Magnitude0
OMIM300248
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137853330(G;G)
Alt rs137853330(G;G)
Reference rs137853330(C;C)
Significance Pathogenic
Disease Anhidrotic ectodermal dysplasia with immune deficiency
Variation info
Gene IKBKG
CLNDBN Anhidrotic ectodermal dysplasia with immune deficiency
Reversed 0
HGVS NC_000023.10:g.153791119C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012221.11,