rs1085307421

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51919062

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307421
dbSNP (classic)	rs1085307421
ClinGen	rs1085307421
ebi	rs1085307421
HLI	rs1085307421
Exac	rs1085307421
Gnomad	rs1085307421
Varsome	rs1085307421
LitVar	rs1085307421
Map	rs1085307421
PheGenI	rs1085307421
Biobank	rs1085307421
1000 genomes	rs1085307421
hgdp	rs1085307421
ensembl	rs1085307421
geneview	rs1085307421
scholar	rs1085307421
google	rs1085307421
pharmgkb	rs1085307421
gwascentral	rs1085307421
openSNP	rs1085307421
23andMe	rs1085307421
SNPshot	rs1085307421
SNPdbe	rs1085307421
MSV3d	rs1085307421
GWAS Ctlg	rs1085307421

Max Magnitude

0

ClinVar
Risk	rs1085307421(A;A)
Alt	rs1085307421(A;A)
Reference	Rs1085307421(G;G)
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.52312846G>A
CLNSRC
CLNACC	RCV000488495.1,