rs1085307409

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51915270

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307409
dbSNP (classic)	rs1085307409
ClinGen	rs1085307409
ebi	rs1085307409
HLI	rs1085307409
Exac	rs1085307409
Gnomad	rs1085307409
Varsome	rs1085307409
LitVar	rs1085307409
Map	rs1085307409
PheGenI	rs1085307409
Biobank	rs1085307409
1000 genomes	rs1085307409
hgdp	rs1085307409
ensembl	rs1085307409
geneview	rs1085307409
scholar	rs1085307409
google	rs1085307409
pharmgkb	rs1085307409
gwascentral	rs1085307409
openSNP	rs1085307409
23andMe	rs1085307409
SNPshot	rs1085307409
SNPdbe	rs1085307409
MSV3d	rs1085307409
GWAS Ctlg	rs1085307409

Max Magnitude

0

ClinVar
Risk	rs1085307409(C;C)
Alt	rs1085307409(C;C)
Reference	Rs1085307409(T;T)
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.52309054T>C
CLNSRC
CLNACC	RCV000488783.1,