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rs28931586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28931586(C;C)
Make rs28931586(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position46122349
GeneCD40
is asnp
is mentioned by
dbSNPrs28931586
ebirs28931586
HLIrs28931586
Exacrs28931586
Varsomers28931586
Maprs28931586
PheGenIrs28931586
hapmaprs28931586
1000 genomesrs28931586
hgdprs28931586
ensemblrs28931586
gopubmedrs28931586
geneviewrs28931586
scholarrs28931586
googlers28931586
pharmgkbrs28931586
gwascentralrs28931586
openSNPrs28931586
23andMers28931586
23andMe allrs28931586
SNP Nexus

SNPshotrs28931586
SNPdbers28931586
MSV3drs28931586
GWAS Ctlgrs28931586
Max Magnitude0
OMIM109535
DescIMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
Variant0002
Relatedalso


ClinVar
Risk rs28931586(C;C)
Alt rs28931586(C;C)
Reference rs28931586(T;T)
Significance Pathogenic
Disease Immunodeficiency with hyper IgM type 3
Variation info
Gene CD40
CLNDBN Immunodeficiency with hyper IgM type 3
Reversed 0
HGVS NC_000020.10:g.44750988T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019325.27,