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rs137853324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853324(G;T)
Make rs137853324(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154564372
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853324
dbSNP (classic)rs137853324
ClinGenrs137853324
ebirs137853324
HLIrs137853324
Exacrs137853324
Gnomadrs137853324
Varsomers137853324
LitVarrs137853324
Maprs137853324
PheGenIrs137853324
Biobankrs137853324
1000 genomesrs137853324
hgdprs137853324
ensemblrs137853324
geneviewrs137853324
scholarrs137853324
googlers137853324
pharmgkbrs137853324
gwascentralrs137853324
openSNPrs137853324
23andMers137853324
SNPshotrs137853324
SNPdbers137853324
MSV3drs137853324
GWAS Ctlgrs137853324
Max Magnitude0
OMIM300248
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853324(T;T)
Alt rs137853324(T;T)
Reference Rs137853324(G;G)
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.153792587G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012206.11,