rs1085307416

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51916111

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307416
dbSNP (classic)	rs1085307416
ClinGen	rs1085307416
ebi	rs1085307416
HLI	rs1085307416
Exac	rs1085307416
Gnomad	rs1085307416
Varsome	rs1085307416
LitVar	rs1085307416
Map	rs1085307416
PheGenI	rs1085307416
Biobank	rs1085307416
1000 genomes	rs1085307416
hgdp	rs1085307416
ensembl	rs1085307416
geneview	rs1085307416
scholar	rs1085307416
google	rs1085307416
pharmgkb	rs1085307416
gwascentral	rs1085307416
openSNP	rs1085307416
23andMe	rs1085307416
SNPshot	rs1085307416
SNPdbe	rs1085307416
MSV3d	rs1085307416
GWAS Ctlg	rs1085307416

Max Magnitude

0

ClinVar
Risk	rs1085307416(G;G)
Alt	rs1085307416(G;G)
Reference	Rs1085307416(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.52309895A>G
CLNSRC
CLNACC	RCV000488853.1,