rs1085307407

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51914050

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307407
dbSNP (classic)	rs1085307407
ClinGen	rs1085307407
ebi	rs1085307407
HLI	rs1085307407
Exac	rs1085307407
Gnomad	rs1085307407
Varsome	rs1085307407
LitVar	rs1085307407
Map	rs1085307407
PheGenI	rs1085307407
Biobank	rs1085307407
1000 genomes	rs1085307407
hgdp	rs1085307407
ensembl	rs1085307407
geneview	rs1085307407
scholar	rs1085307407
google	rs1085307407
pharmgkb	rs1085307407
gwascentral	rs1085307407
openSNP	rs1085307407
23andMe	rs1085307407
SNPshot	rs1085307407
SNPdbe	rs1085307407
MSV3d	rs1085307407
GWAS Ctlg	rs1085307407

Max Magnitude

0

ClinVar
Risk	rs1085307407(G;G)
Alt	rs1085307407(G;G)
Reference	Rs1085307407(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.52307834A>G
CLNSRC
CLNACC	RCV000488786.1,