rs1085307405

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51913236

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307405
dbSNP (classic)	rs1085307405
ClinGen	rs1085307405
ebi	rs1085307405
HLI	rs1085307405
Exac	rs1085307405
Gnomad	rs1085307405
Varsome	rs1085307405
LitVar	rs1085307405
Map	rs1085307405
PheGenI	rs1085307405
Biobank	rs1085307405
1000 genomes	rs1085307405
hgdp	rs1085307405
ensembl	rs1085307405
geneview	rs1085307405
scholar	rs1085307405
google	rs1085307405
pharmgkb	rs1085307405
gwascentral	rs1085307405
openSNP	rs1085307405
23andMe	rs1085307405
SNPshot	rs1085307405
SNPdbe	rs1085307405
MSV3d	rs1085307405
GWAS Ctlg	rs1085307405

Max Magnitude

0

ClinVar
Risk	rs1085307405(T;T)
Alt	rs1085307405(T;T)
Reference	Rs1085307405(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.52307020C>T
CLNSRC
CLNACC	RCV000488479.1,