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rs104894772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894772(A;G)
Make rs104894772(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136656395
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894772
ebirs104894772
HLIrs104894772
Exacrs104894772
Varsomers104894772
Maprs104894772
PheGenIrs104894772
hapmaprs104894772
1000 genomesrs104894772
hgdprs104894772
ensemblrs104894772
gopubmedrs104894772
geneviewrs104894772
scholarrs104894772
googlers104894772
pharmgkbrs104894772
gwascentralrs104894772
openSNPrs104894772
23andMers104894772
23andMe allrs104894772
SNP Nexus

SNPshotrs104894772
SNPdbers104894772
MSV3drs104894772
GWAS Ctlgrs104894772
Max Magnitude0
OMIM300386
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894772(G;G)
Alt rs104894772(G;G)
Reference rs104894772(A;A)
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.135738554A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011908.2,