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rs104894778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894778(A;A)
Make rs104894778(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136656377
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894778
ebirs104894778
HLIrs104894778
Exacrs104894778
Varsomers104894778
Maprs104894778
PheGenIrs104894778
hapmaprs104894778
1000 genomesrs104894778
hgdprs104894778
ensemblrs104894778
gopubmedrs104894778
geneviewrs104894778
scholarrs104894778
googlers104894778
pharmgkbrs104894778
gwascentralrs104894778
openSNPrs104894778
23andMers104894778
23andMe allrs104894778
SNP Nexus

SNPshotrs104894778
SNPdbers104894778
MSV3drs104894778
GWAS Ctlgrs104894778
Max Magnitude0
OMIM300386
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894778(A;A)
Alt rs104894778(A;A)
Reference rs104894778(C;C)
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.135738536C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011918.2,