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rs121908379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs121908379(CC;GG)
Make rs121908379(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome17
Position16940375
GeneTNFRSF13B
is asnp
is mentioned by
dbSNPrs121908379
dbSNP (classic)rs121908379
ClinGenrs121908379
ebirs121908379
HLIrs121908379
Exacrs121908379
Gnomadrs121908379
Varsomers121908379
LitVarrs121908379
Maprs121908379
PheGenIrs121908379
Biobankrs121908379
1000 genomesrs121908379
hgdprs121908379
ensemblrs121908379
geneviewrs121908379
scholarrs121908379
googlers121908379
pharmgkbrs121908379
gwascentralrs121908379
openSNPrs121908379
23andMers121908379
SNPshotrs121908379
SNPdbers121908379
MSV3drs121908379
GWAS Ctlgrs121908379
Max Magnitude0
OMIM604907
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908379(AA;AA) rs121908379(GG;GG)
Alt rs121908379(AA;AA) rs121908379(GG;GG)
Reference Rs121908379(CC;CC)
Significance Pathogenic
Disease Common variable immunodeficiency 2
Variation info
Gene TNFRSF13B
CLNDBN Common variable immunodeficiency 2
Reversed 1
HGVS NC_000017.10:g.16843689_16843690delGGinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005630.2,