rs1085307404

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51912511

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307404
dbSNP (classic)	rs1085307404
ClinGen	rs1085307404
ebi	rs1085307404
HLI	rs1085307404
Exac	rs1085307404
Gnomad	rs1085307404
Varsome	rs1085307404
LitVar	rs1085307404
Map	rs1085307404
PheGenI	rs1085307404
Biobank	rs1085307404
1000 genomes	rs1085307404
hgdp	rs1085307404
ensembl	rs1085307404
geneview	rs1085307404
scholar	rs1085307404
google	rs1085307404
pharmgkb	rs1085307404
gwascentral	rs1085307404
openSNP	rs1085307404
23andMe	rs1085307404
SNPshot	rs1085307404
SNPdbe	rs1085307404
MSV3d	rs1085307404
GWAS Ctlg	rs1085307404

Max Magnitude

0

ClinVar
Risk	rs1085307404(-;-)
Alt	rs1085307404(-;-)
Reference	Rs1085307404(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.52306295delC
CLNSRC
CLNACC	RCV000488723.1,