rs1057519050

Orientation

minus

Stabilized

minus

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

Make rs1057519050(G;G)

Make rs1057519050(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

114398679

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs1057519050
dbSNP (classic)	rs1057519050
ClinGen	rs1057519050
ebi	rs1057519050
HLI	rs1057519050
Exac	rs1057519050
Gnomad	rs1057519050
Varsome	rs1057519050
LitVar	rs1057519050
Map	rs1057519050
PheGenI	rs1057519050
Biobank	rs1057519050
1000 genomes	rs1057519050
hgdp	rs1057519050
ensembl	rs1057519050
geneview	rs1057519050
scholar	rs1057519050
google	rs1057519050
pharmgkb	rs1057519050
gwascentral	rs1057519050
openSNP	rs1057519050
23andMe	rs1057519050
SNPshot	rs1057519050
SNPdbe	rs1057519050
MSV3d	rs1057519050
GWAS Ctlg	rs1057519050

Max Magnitude

0

ClinVar
Risk	rs1057519050(G;G)
Alt	rs1057519050(G;G)
Reference	Rs1057519050(T;T)
Significance	Probable-Pathogenic
Disease	Atrioventricular septal defect
Variation	info
Gene	TBX5
CLNDBN	Atrioventricular septal defect
Reversed	1
HGVS	NC_000012.11:g.114836484A>C
CLNSRC
CLNACC	RCV000416326.1,