rs1085307422

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51920766

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307422
dbSNP (classic)	rs1085307422
ClinGen	rs1085307422
ebi	rs1085307422
HLI	rs1085307422
Exac	rs1085307422
Gnomad	rs1085307422
Varsome	rs1085307422
LitVar	rs1085307422
Map	rs1085307422
PheGenI	rs1085307422
Biobank	rs1085307422
1000 genomes	rs1085307422
hgdp	rs1085307422
ensembl	rs1085307422
geneview	rs1085307422
scholar	rs1085307422
google	rs1085307422
pharmgkb	rs1085307422
gwascentral	rs1085307422
openSNP	rs1085307422
23andMe	rs1085307422
SNPshot	rs1085307422
SNPdbe	rs1085307422
MSV3d	rs1085307422
GWAS Ctlg	rs1085307422

Max Magnitude

0

ClinVar
Risk	rs1085307422(G;G)
Alt	rs1085307422(G;G)
Reference	Rs1085307422(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.52314550C>G
CLNSRC
CLNACC	RCV000488647.1,