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rs104894775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894775(A;A)
Make rs104894775(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136659048
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894775
ebirs104894775
HLIrs104894775
Exacrs104894775
Varsomers104894775
Maprs104894775
PheGenIrs104894775
hapmaprs104894775
1000 genomesrs104894775
hgdprs104894775
ensemblrs104894775
gopubmedrs104894775
geneviewrs104894775
scholarrs104894775
googlers104894775
pharmgkbrs104894775
gwascentralrs104894775
openSNPrs104894775
23andMers104894775
23andMe allrs104894775
SNP Nexus

SNPshotrs104894775
SNPdbers104894775
MSV3drs104894775
GWAS Ctlgrs104894775
Max Magnitude0
OMIM300386
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894775(A;A)
Alt rs104894775(A;A)
Reference rs104894775(G;G)
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.135741207G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011913.18,