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rs387907351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907351(A;G)
Make rs387907351(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position2944495
GeneCARD11, LOC101927256
is asnp
is mentioned by
dbSNPrs387907351
dbSNP (classic)rs387907351
ClinGenrs387907351
ebirs387907351
HLIrs387907351
Exacrs387907351
Gnomadrs387907351
Varsomers387907351
LitVarrs387907351
Maprs387907351
PheGenIrs387907351
Biobankrs387907351
1000 genomesrs387907351
hgdprs387907351
ensemblrs387907351
geneviewrs387907351
scholarrs387907351
googlers387907351
pharmgkbrs387907351
gwascentralrs387907351
openSNPrs387907351
23andMers387907351
SNPshotrs387907351
SNPdbers387907351
MSV3drs387907351
GWAS Ctlgrs387907351
Max Magnitude0
ClinVar
Risk rs387907351(G;G)
Alt rs387907351(G;G)
Reference Rs387907351(A;A)
Significance Pathogenic
Disease B-cell expansion with NFKB and T-cell anergy
Variation info
Gene CARD11 LOC101927256
CLNDBN B-cell expansion with NFKB and T-cell anergy
Reversed 1
HGVS NC_000007.13:g.2984129T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000041968.4,