rs863223776

Orientation

minus

Stabilized

minus

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

Make rs863223776(A;A)

Make rs863223776(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

114385476

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs863223776
dbSNP (classic)	rs863223776
ClinGen	rs863223776
ebi	rs863223776
HLI	rs863223776
Exac	rs863223776
Gnomad	rs863223776
Varsome	rs863223776
LitVar	rs863223776
Map	rs863223776
PheGenI	rs863223776
Biobank	rs863223776
1000 genomes	rs863223776
hgdp	rs863223776
ensembl	rs863223776
geneview	rs863223776
scholar	rs863223776
google	rs863223776
pharmgkb	rs863223776
gwascentral	rs863223776
openSNP	rs863223776
23andMe	rs863223776
SNPshot	rs863223776
SNPdbe	rs863223776
MSV3d	rs863223776
GWAS Ctlg	rs863223776

Max Magnitude

0

ClinVar
Risk	rs863223776(A;A) rs863223776(C;C) rs863223776(T;T)
Alt	rs863223776(A;A) rs863223776(C;C) rs863223776(T;T)
Reference	Rs863223776(G;G)
Significance	Pathogenic
Disease	Aortic valve disease 2 not provided
Variation	info
Gene	TBX5
CLNDBN	Aortic valve disease 2 not provided
Reversed	1
HGVS	NC_000012.11:g.114823281C>A; NC_000012.11:g.114823281C>G; NC_000012.11:g.114823281C>T
CLNSRC
CLNACC	RCV000466448.1, RCV000255260.1, RCV000198982.1,