rs1085307418

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51916182

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307418
dbSNP (classic)	rs1085307418
ClinGen	rs1085307418
ebi	rs1085307418
HLI	rs1085307418
Exac	rs1085307418
Gnomad	rs1085307418
Varsome	rs1085307418
LitVar	rs1085307418
Map	rs1085307418
PheGenI	rs1085307418
Biobank	rs1085307418
1000 genomes	rs1085307418
hgdp	rs1085307418
ensembl	rs1085307418
geneview	rs1085307418
scholar	rs1085307418
google	rs1085307418
pharmgkb	rs1085307418
gwascentral	rs1085307418
openSNP	rs1085307418
23andMe	rs1085307418
SNPshot	rs1085307418
SNPdbe	rs1085307418
MSV3d	rs1085307418
GWAS Ctlg	rs1085307418

Max Magnitude

0

ClinVar
Risk	rs1085307418(C;C)
Alt	rs1085307418(C;C)
Reference	Rs1085307418(T;T)
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.52309966T>C
CLNSRC
CLNACC	RCV000488764.1,