rs1060503154

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1060503154(A;A)

Make rs1060503154(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

114398640

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs1060503154
dbSNP (classic)	rs1060503154
ClinGen	rs1060503154
ebi	rs1060503154
HLI	rs1060503154
Exac	rs1060503154
Gnomad	rs1060503154
Varsome	rs1060503154
LitVar	rs1060503154
Map	rs1060503154
PheGenI	rs1060503154
Biobank	rs1060503154
1000 genomes	rs1060503154
hgdp	rs1060503154
ensembl	rs1060503154
geneview	rs1060503154
scholar	rs1060503154
google	rs1060503154
pharmgkb	rs1060503154
gwascentral	rs1060503154
openSNP	rs1060503154
23andMe	rs1060503154
SNPshot	rs1060503154
SNPdbe	rs1060503154
MSV3d	rs1060503154
GWAS Ctlg	rs1060503154

Max Magnitude

0

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,