Rs104894768

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894768(G;T)
Make rs104894768(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136659309
GeneCD40LG
is asnp
is mentioned by
dbSNPrs104894768
Exacrs104894768
PheGenIrs104894768
nextbiors104894768
hapmaprs104894768
1000 genomesrs104894768
hgdprs104894768
ensemblrs104894768
gopubmedrs104894768
geneviewrs104894768
scholarrs104894768
googlers104894768
pharmgkbrs104894768
gwascentralrs104894768
openSNPrs104894768
23andMers104894768
23andMe allrs104894768
SNP Nexus

SNPshotrs104894768
SNPdbers104894768
MSV3drs104894768
OMIM300386
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894768(T;T)
Alt rs104894768(T;T)
Reference rs104894768(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.135741468G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011909.5,