rs1085307424

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51920771

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307424
dbSNP (classic)	rs1085307424
ClinGen	rs1085307424
ebi	rs1085307424
HLI	rs1085307424
Exac	rs1085307424
Gnomad	rs1085307424
Varsome	rs1085307424
LitVar	rs1085307424
Map	rs1085307424
PheGenI	rs1085307424
Biobank	rs1085307424
1000 genomes	rs1085307424
hgdp	rs1085307424
ensembl	rs1085307424
geneview	rs1085307424
scholar	rs1085307424
google	rs1085307424
pharmgkb	rs1085307424
gwascentral	rs1085307424
openSNP	rs1085307424
23andMe	rs1085307424
SNPshot	rs1085307424
SNPdbe	rs1085307424
MSV3d	rs1085307424
GWAS Ctlg	rs1085307424

Max Magnitude

0

ClinVar
Risk	rs1085307424(-;-)
Alt	rs1085307424(-;-)
Reference	Rs1085307424(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.52314555delC
CLNSRC
CLNACC	RCV000488490.1,