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rs104894777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894777(G;G)
Make rs104894777(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136659047
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894777
dbSNP (classic)rs104894777
ClinGenrs104894777
ebirs104894777
HLIrs104894777
Exacrs104894777
Gnomadrs104894777
Varsomers104894777
LitVarrs104894777
Maprs104894777
PheGenIrs104894777
Biobankrs104894777
1000 genomesrs104894777
hgdprs104894777
ensemblrs104894777
geneviewrs104894777
scholarrs104894777
googlers104894777
pharmgkbrs104894777
gwascentralrs104894777
openSNPrs104894777
23andMers104894777
SNPshotrs104894777
SNPdbers104894777
MSV3drs104894777
GWAS Ctlgrs104894777
Max Magnitude0
OMIM300386
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894777(G;G)
Alt rs104894777(G;G)
Reference Rs104894777(T;T)
Significance Pathogenic
Disease Immunodeficiency with hyper IgM type 1 not provided
Variation info
Gene CD40LG
CLNDBN Immunodeficiency with hyper IgM type 1 not provided
Reversed 0
HGVS NC_000023.10:g.135741206T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011914.7, RCV000256172.1,