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rs104894773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894773(A;A)
Make rs104894773(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136656393
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894773
dbSNP (classic)rs104894773
ClinGenrs104894773
ebirs104894773
HLIrs104894773
Exacrs104894773
Gnomadrs104894773
Varsomers104894773
LitVarrs104894773
Maprs104894773
PheGenIrs104894773
Biobankrs104894773
1000 genomesrs104894773
hgdprs104894773
ensemblrs104894773
geneviewrs104894773
scholarrs104894773
googlers104894773
pharmgkbrs104894773
gwascentralrs104894773
openSNPrs104894773
23andMers104894773
SNPshotrs104894773
SNPdbers104894773
MSV3drs104894773
GWAS Ctlgrs104894773
Max Magnitude0
OMIM300386
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894773(A;A)
Alt rs104894773(A;A)
Reference Rs104894773(T;T)
Significance 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.135738552T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011908.2,