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rs794729673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729673(A;A)
Make rs794729673(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position2947649
GeneCARD11
is asnp
is mentioned by
dbSNPrs794729673
dbSNP (classic)rs794729673
ClinGenrs794729673
ebirs794729673
HLIrs794729673
Exacrs794729673
Gnomadrs794729673
Varsomers794729673
LitVarrs794729673
Maprs794729673
PheGenIrs794729673
Biobankrs794729673
1000 genomesrs794729673
hgdprs794729673
ensemblrs794729673
geneviewrs794729673
scholarrs794729673
googlers794729673
pharmgkbrs794729673
gwascentralrs794729673
openSNPrs794729673
23andMers794729673
SNPshotrs794729673
SNPdbers794729673
MSV3drs794729673
GWAS Ctlgrs794729673
Max Magnitude0
ClinVar
Risk rs794729673(A;A)
Alt rs794729673(A;A)
Reference Rs794729673(G;G)
Significance Pathogenic
Disease B-cell expansion with NFKB and T-cell anergy
Variation info
Gene CARD11
CLNDBN B-cell expansion with NFKB and T-cell anergy
Reversed 1
HGVS NC_000007.13:g.2987283C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185616.2,