rs1085307427

Orientation

plus

Stabilized

plus

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

Chromosome

12

Position

51920831

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1085307427
dbSNP (classic)	rs1085307427
ClinGen	rs1085307427
ebi	rs1085307427
HLI	rs1085307427
Exac	rs1085307427
Gnomad	rs1085307427
Varsome	rs1085307427
LitVar	rs1085307427
Map	rs1085307427
PheGenI	rs1085307427
Biobank	rs1085307427
1000 genomes	rs1085307427
hgdp	rs1085307427
ensembl	rs1085307427
geneview	rs1085307427
scholar	rs1085307427
google	rs1085307427
pharmgkb	rs1085307427
gwascentral	rs1085307427
openSNP	rs1085307427
23andMe	rs1085307427
SNPshot	rs1085307427
SNPdbe	rs1085307427
MSV3d	rs1085307427
GWAS Ctlg	rs1085307427

Max Magnitude

0

ClinVar
Risk	rs1085307427(TG;TG)
Alt	rs1085307427(TG;TG)
Reference	Rs1085307427(C;C)
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.52314615delCinsTG
CLNSRC
CLNACC	RCV000488689.1,