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rs387907352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907352(A;A)
Make rs387907352(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position2944529
GeneCARD11, LOC101927256
is asnp
is mentioned by
dbSNPrs387907352
dbSNP (classic)rs387907352
ClinGenrs387907352
ebirs387907352
HLIrs387907352
Exacrs387907352
Gnomadrs387907352
Varsomers387907352
LitVarrs387907352
Maprs387907352
PheGenIrs387907352
Biobankrs387907352
1000 genomesrs387907352
hgdprs387907352
ensemblrs387907352
geneviewrs387907352
scholarrs387907352
googlers387907352
pharmgkbrs387907352
gwascentralrs387907352
openSNPrs387907352
23andMers387907352
SNPshotrs387907352
SNPdbers387907352
MSV3drs387907352
GWAS Ctlgrs387907352
Max Magnitude0
ClinVar
Risk rs387907352(A;A)
Alt rs387907352(A;A)
Reference Rs387907352(G;G)
Significance Pathogenic
Disease B-cell expansion with NFKB and T-cell anergy
Variation info
Gene LOC101927256 CARD11
CLNDBN B-cell expansion with NFKB and T-cell anergy
Reversed 1
HGVS NC_000007.13:g.2984163C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000041969.5,