rs1085307428

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51920841

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307428
dbSNP (classic)	rs1085307428
ClinGen	rs1085307428
ebi	rs1085307428
HLI	rs1085307428
Exac	rs1085307428
Gnomad	rs1085307428
Varsome	rs1085307428
LitVar	rs1085307428
Map	rs1085307428
PheGenI	rs1085307428
Biobank	rs1085307428
1000 genomes	rs1085307428
hgdp	rs1085307428
ensembl	rs1085307428
geneview	rs1085307428
scholar	rs1085307428
google	rs1085307428
pharmgkb	rs1085307428
gwascentral	rs1085307428
openSNP	rs1085307428
23andMe	rs1085307428
SNPshot	rs1085307428
SNPdbe	rs1085307428
MSV3d	rs1085307428
GWAS Ctlg	rs1085307428

Max Magnitude

0

ClinVar
Risk	rs1085307428(C;C)
Alt	rs1085307428(C;C)
Reference	Rs1085307428(A;A)
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.52314625A>C
CLNSRC
CLNACC	RCV000488579.1,