rs1085307429

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51920849

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307429
dbSNP (classic)	rs1085307429
ClinGen	rs1085307429
ebi	rs1085307429
HLI	rs1085307429
Exac	rs1085307429
Gnomad	rs1085307429
Varsome	rs1085307429
LitVar	rs1085307429
Map	rs1085307429
PheGenI	rs1085307429
Biobank	rs1085307429
1000 genomes	rs1085307429
hgdp	rs1085307429
ensembl	rs1085307429
geneview	rs1085307429
scholar	rs1085307429
google	rs1085307429
pharmgkb	rs1085307429
gwascentral	rs1085307429
openSNP	rs1085307429
23andMe	rs1085307429
SNPshot	rs1085307429
SNPdbe	rs1085307429
MSV3d	rs1085307429
GWAS Ctlg	rs1085307429

Max Magnitude

0

ClinVar
Risk	rs1085307429(T;T)
Alt	rs1085307429(T;T)
Reference	Rs1085307429(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.52314633C>T
CLNSRC
CLNACC	RCV000488710.1,