rs1085307415

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51916042

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307415
dbSNP (classic)	rs1085307415
ClinGen	rs1085307415
ebi	rs1085307415
HLI	rs1085307415
Exac	rs1085307415
Gnomad	rs1085307415
Varsome	rs1085307415
LitVar	rs1085307415
Map	rs1085307415
PheGenI	rs1085307415
Biobank	rs1085307415
1000 genomes	rs1085307415
hgdp	rs1085307415
ensembl	rs1085307415
geneview	rs1085307415
scholar	rs1085307415
google	rs1085307415
pharmgkb	rs1085307415
gwascentral	rs1085307415
openSNP	rs1085307415
23andMe	rs1085307415
SNPshot	rs1085307415
SNPdbe	rs1085307415
MSV3d	rs1085307415
GWAS Ctlg	rs1085307415

Max Magnitude

0

ClinVar
Risk	rs1085307415(A;A)
Alt	rs1085307415(A;A)
Reference	Rs1085307415(C;C)
Significance	Pathogenic
Disease	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	0
HGVS	NC_000012.11:g.52309826C>A
CLNSRC
CLNACC	RCV000488852.1,