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rs267607100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607100(A;A)
Make rs267607100(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position149378603
GeneTAB2
is asnp
is mentioned by
dbSNPrs267607100
dbSNP (classic)rs267607100
ClinGenrs267607100
ebirs267607100
HLIrs267607100
Exacrs267607100
Gnomadrs267607100
Varsomers267607100
LitVarrs267607100
Maprs267607100
PheGenIrs267607100
Biobankrs267607100
1000 genomesrs267607100
hgdprs267607100
ensemblrs267607100
geneviewrs267607100
scholarrs267607100
googlers267607100
pharmgkbrs267607100
gwascentralrs267607100
openSNPrs267607100
23andMers267607100
SNPshotrs267607100
SNPdbers267607100
MSV3drs267607100
GWAS Ctlgrs267607100
Max Magnitude0
ClinVar
Risk rs267607100(A;A)
Alt rs267607100(A;A)
Reference Rs267607100(C;C)
Significance Pathogenic
Disease Congenital heart defects
Variation info
Gene TAB2
CLNDBN Congenital heart defects, multiple types, 2
Reversed 0
HGVS NC_000006.11:g.149699739C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005522.3,