Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894649(A;A)
Make rs104894649(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position16940352
GeneTNFRSF13B
is asnp
is mentioned by
dbSNPrs104894649
dbSNP (classic)rs104894649
ClinGenrs104894649
ebirs104894649
HLIrs104894649
Exacrs104894649
Gnomadrs104894649
Varsomers104894649
LitVarrs104894649
Maprs104894649
PheGenIrs104894649
Biobankrs104894649
1000 genomesrs104894649
hgdprs104894649
ensemblrs104894649
geneviewrs104894649
scholarrs104894649
googlers104894649
pharmgkbrs104894649
gwascentralrs104894649
openSNPrs104894649
23andMers104894649
SNPshotrs104894649
SNPdbers104894649
MSV3drs104894649
GWAS Ctlgrs104894649
Max Magnitude0
OMIM604907
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894649(A;A)
Alt rs104894649(A;A)
Reference Rs104894649(G;G)
Significance Pathogenic
Disease Common variable immunodeficiency 2 Common Variable Immune Deficiency
Variation info
Gene TNFRSF13B
CLNDBN Common variable immunodeficiency 2 Common Variable Immune Deficiency, Dominant
Reversed 1
HGVS NC_000017.10:g.16843666C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005627.2, RCV000397011.1,