rs1057520136

Orientation

minus

Stabilized

minus

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

Make rs1057520136(-;-)

Make rs1057520136(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

114398627

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs1057520136
dbSNP (classic)	rs1057520136
ClinGen	rs1057520136
ebi	rs1057520136
HLI	rs1057520136
Exac	rs1057520136
Gnomad	rs1057520136
Varsome	rs1057520136
LitVar	rs1057520136
Map	rs1057520136
PheGenI	rs1057520136
Biobank	rs1057520136
1000 genomes	rs1057520136
hgdp	rs1057520136
ensembl	rs1057520136
geneview	rs1057520136
scholar	rs1057520136
google	rs1057520136
pharmgkb	rs1057520136
gwascentral	rs1057520136
openSNP	rs1057520136
23andMe	rs1057520136
SNPshot	rs1057520136
SNPdbe	rs1057520136
MSV3d	rs1057520136
GWAS Ctlg	rs1057520136

Max Magnitude

0

ClinVar
Risk	rs1057520136(-;-)
Alt	rs1057520136(-;-)
Reference	Rs1057520136(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.114836432delG
CLNSRC
CLNACC	RCV000443799.1, RCV000460311.1,