rs1057517944

Orientation

plus

Stabilized

plus

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

Make rs1057517944(C;T)

Make rs1057517944(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51920816

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1057517944
dbSNP (classic)	rs1057517944
ClinGen	rs1057517944
ebi	rs1057517944
HLI	rs1057517944
Exac	rs1057517944
Gnomad	rs1057517944
Varsome	rs1057517944
LitVar	rs1057517944
Map	rs1057517944
PheGenI	rs1057517944
Biobank	rs1057517944
1000 genomes	rs1057517944
hgdp	rs1057517944
ensembl	rs1057517944
geneview	rs1057517944
scholar	rs1057517944
google	rs1057517944
pharmgkb	rs1057517944
gwascentral	rs1057517944
openSNP	rs1057517944
23andMe	rs1057517944
SNPshot	rs1057517944
SNPdbe	rs1057517944
MSV3d	rs1057517944
GWAS Ctlg	rs1057517944

Max Magnitude

0

ClinVar
Risk	rs1057517944(T;T)
Alt	rs1057517944(T;T)
Reference	Rs1057517944(C;C)
Significance	Pathogenic
Disease	not provided Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	not provided Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	0
HGVS	NC_000012.11:g.52314600C>T
CLNSRC
CLNACC	RCV000414291.1, RCV000488776.1,