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rs1060503154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503154(A;A)
Make rs1060503154(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position114398640
GeneTBX5
is asnp
is mentioned by
dbSNPrs1060503154
dbSNP (old)rs1060503154
ClinGenrs1060503154
ebirs1060503154
HLIrs1060503154
Exacrs1060503154
Gnomadrs1060503154
Varsomers1060503154
LitVarrs1060503154
Maprs1060503154
PheGenIrs1060503154
Biobankrs1060503154
1000 genomesrs1060503154
hgdprs1060503154
ensemblrs1060503154
gopubmedrs1060503154
geneviewrs1060503154
scholarrs1060503154
googlers1060503154
pharmgkbrs1060503154
gwascentralrs1060503154
openSNPrs1060503154
23andMers1060503154
23andMe allrs1060503154
SNPshotrs1060503154
SNPdbers1060503154
MSV3drs1060503154
GWAS Ctlgrs1060503154
Max Magnitude0
ClinVar
Risk rs1060503154(A;A)
Alt rs1060503154(A;A)
Reference Rs1060503154(G;G)
Significance Pathogenic
Disease Aortic valve disease 2
Variation info
Gene TBX5
CLNDBN Aortic valve disease 2
Reversed 1
HGVS NC_000012.11:g.114836445C>T
CLNSRC
CLNACC RCV000466209.1,