rs1057516042

Orientation

minus

Stabilized

minus

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

Make rs1057516042(-;-)

Make rs1057516042(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

114403794

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs1057516042
dbSNP (classic)	rs1057516042
ClinGen	rs1057516042
ebi	rs1057516042
HLI	rs1057516042
Exac	rs1057516042
Gnomad	rs1057516042
Varsome	rs1057516042
LitVar	rs1057516042
Map	rs1057516042
PheGenI	rs1057516042
Biobank	rs1057516042
1000 genomes	rs1057516042
hgdp	rs1057516042
ensembl	rs1057516042
geneview	rs1057516042
scholar	rs1057516042
google	rs1057516042
pharmgkb	rs1057516042
gwascentral	rs1057516042
openSNP	rs1057516042
23andMe	rs1057516042
SNPshot	rs1057516042
SNPdbe	rs1057516042
MSV3d	rs1057516042
GWAS Ctlg	rs1057516042

Max Magnitude

0

ClinVar
Risk	rs1057516042(-;-)
Alt	rs1057516042(-;-)
Reference	Rs1057516042(C;C)
Significance	Pathogenic
Disease	Holt-Oram syndrome
Variation	info
Gene	TBX5
CLNDBN	Holt-Oram syndrome
Reversed	1
HGVS	NC_000012.11:g.114841599delG
CLNSRC
CLNACC	RCV000408637.1,