rs1085307420

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51919018

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307420
dbSNP (classic)	rs1085307420
ClinGen	rs1085307420
ebi	rs1085307420
HLI	rs1085307420
Exac	rs1085307420
Gnomad	rs1085307420
Varsome	rs1085307420
LitVar	rs1085307420
Map	rs1085307420
PheGenI	rs1085307420
Biobank	rs1085307420
1000 genomes	rs1085307420
hgdp	rs1085307420
ensembl	rs1085307420
geneview	rs1085307420
scholar	rs1085307420
google	rs1085307420
pharmgkb	rs1085307420
gwascentral	rs1085307420
openSNP	rs1085307420
23andMe	rs1085307420
SNPshot	rs1085307420
SNPdbe	rs1085307420
MSV3d	rs1085307420
GWAS Ctlg	rs1085307420

Max Magnitude

0

ClinVar
Risk	rs1085307420(T;T)
Alt	rs1085307420(T;T)
Reference	Rs1085307420(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.52312802A>T
CLNSRC
CLNACC	RCV000488738.1,