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rs193922134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922134(-;-)
Make rs193922134(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136650298
GeneCD40LG
is asnp
is mentioned by
dbSNPrs193922134
ebirs193922134
HLIrs193922134
Exacrs193922134
Varsomers193922134
Maprs193922134
PheGenIrs193922134
hapmaprs193922134
1000 genomesrs193922134
hgdprs193922134
ensemblrs193922134
gopubmedrs193922134
geneviewrs193922134
scholarrs193922134
googlers193922134
pharmgkbrs193922134
gwascentralrs193922134
openSNPrs193922134
23andMers193922134
23andMe allrs193922134
SNP Nexus

SNPshotrs193922134
SNPdbers193922134
MSV3drs193922134
GWAS Ctlgrs193922134
Max Magnitude0
ClinVar
Risk rs193922134(;)
Alt rs193922134(;)
Reference rs193922134(T;T)
Significance Probable-Pathogenic
Disease Immunodeficiency with hyper IgM type 1
Variation info
Gene CD40LG
CLNDBN Immunodeficiency with hyper IgM type 1
Reversed 0
HGVS NC_000023.10:g.135732457delT
CLNSRC ClinVar LabCorp
CLNACC RCV000029463.1,