rs1085307423

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51920769

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307423
dbSNP (classic)	rs1085307423
ClinGen	rs1085307423
ebi	rs1085307423
HLI	rs1085307423
Exac	rs1085307423
Gnomad	rs1085307423
Varsome	rs1085307423
LitVar	rs1085307423
Map	rs1085307423
PheGenI	rs1085307423
Biobank	rs1085307423
1000 genomes	rs1085307423
hgdp	rs1085307423
ensembl	rs1085307423
geneview	rs1085307423
scholar	rs1085307423
google	rs1085307423
pharmgkb	rs1085307423
gwascentral	rs1085307423
openSNP	rs1085307423
23andMe	rs1085307423
SNPshot	rs1085307423
SNPdbe	rs1085307423
MSV3d	rs1085307423
GWAS Ctlg	rs1085307423

Max Magnitude

0

ClinVar
Risk	rs1085307423(-;-)
Alt	rs1085307423(-;-)
Reference	Rs1085307423(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.52314553delG
CLNSRC
CLNACC	RCV000488779.1,