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rs1057520136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520136(-;-)
Make rs1057520136(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position114398627
GeneTBX5
is asnp
is mentioned by
dbSNPrs1057520136
dbSNP (classic)rs1057520136
ClinGenrs1057520136
ebirs1057520136
HLIrs1057520136
Exacrs1057520136
Gnomadrs1057520136
Varsomers1057520136
LitVarrs1057520136
Maprs1057520136
PheGenIrs1057520136
Biobankrs1057520136
1000 genomesrs1057520136
hgdprs1057520136
ensemblrs1057520136
geneviewrs1057520136
scholarrs1057520136
googlers1057520136
pharmgkbrs1057520136
gwascentralrs1057520136
openSNPrs1057520136
23andMers1057520136
23andMe allrs1057520136
SNPshotrs1057520136
SNPdbers1057520136
MSV3drs1057520136
GWAS Ctlgrs1057520136
Max Magnitude0
ClinVar
Risk rs1057520136(-;-)
Alt rs1057520136(-;-)
Reference Rs1057520136(C;C)
Significance Pathogenic
Disease not provided Aortic valve disease 2
Variation info
Gene TBX5
CLNDBN not provided Aortic valve disease 2
Reversed 1
HGVS NC_000012.11:g.114836432delG
CLNSRC
CLNACC RCV000443799.1, RCV000460311.1,