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rs137853327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853327(A;T)
Make rs137853327(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154564418
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853327
ebirs137853327
HLIrs137853327
Exacrs137853327
Varsomers137853327
Maprs137853327
PheGenIrs137853327
hapmaprs137853327
1000 genomesrs137853327
hgdprs137853327
ensemblrs137853327
gopubmedrs137853327
geneviewrs137853327
scholarrs137853327
googlers137853327
pharmgkbrs137853327
gwascentralrs137853327
openSNPrs137853327
23andMers137853327
23andMe allrs137853327
SNP Nexus

SNPshotrs137853327
SNPdbers137853327
MSV3drs137853327
GWAS Ctlgrs137853327
Max Magnitude0
OMIM300248
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137853327(T;T)
Alt rs137853327(T;T)
Reference rs137853327(A;A)
Significance Pathogenic
Disease Hyper-IgM immunodeficiency Hypohidrotic ectodermal dysplasia with immune deficiency
Variation info
Gene IKBKG
CLNDBN Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immune deficiency
Reversed 0
HGVS NC_000023.10:g.153792633A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012212.2, RCV000024285.11,