rs863223788

Orientation

minus

Stabilized

minus

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

Make rs863223788(C;T)

Make rs863223788(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

114366312

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs863223788
dbSNP (classic)	rs863223788
ClinGen	rs863223788
ebi	rs863223788
HLI	rs863223788
Exac	rs863223788
Gnomad	rs863223788
Varsome	rs863223788
LitVar	rs863223788
Map	rs863223788
PheGenI	rs863223788
Biobank	rs863223788
1000 genomes	rs863223788
hgdp	rs863223788
ensembl	rs863223788
geneview	rs863223788
scholar	rs863223788
google	rs863223788
pharmgkb	rs863223788
gwascentral	rs863223788
openSNP	rs863223788
23andMe	rs863223788
SNPshot	rs863223788
SNPdbe	rs863223788
MSV3d	rs863223788
GWAS Ctlg	rs863223788

Max Magnitude

0

ClinVar
Risk	rs863223788(T;T)
Alt	rs863223788(T;T)
Reference	Rs863223788(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.114804117G>A
CLNSRC
CLNACC	RCV000196593.2, RCV000459213.1,