Rs104894769

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894769(C;C)
Make rs104894769(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136659093
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894769
Exacrs104894769
PheGenIrs104894769
nextbiors104894769
hapmaprs104894769
1000 genomesrs104894769
hgdprs104894769
ensemblrs104894769
gopubmedrs104894769
geneviewrs104894769
scholarrs104894769
googlers104894769
pharmgkbrs104894769
gwascentralrs104894769
openSNPrs104894769
23andMers104894769
23andMe allrs104894769
SNP Nexus

SNPshotrs104894769
SNPdbers104894769
MSV3drs104894769
OMIM300386
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894769(C;C)
Alt rs104894769(C;C)
Reference rs104894769(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.135741252T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011910.16,