rs758683062

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4.3	Hereditary hemorrhagic telangiectasia

Make rs758683062(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51913675

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs758683062
dbSNP (classic)	rs758683062
ClinGen	rs758683062
ebi	rs758683062
HLI	rs758683062
Exac	rs758683062
Gnomad	rs758683062
Varsome	rs758683062
LitVar	rs758683062
Map	rs758683062
PheGenI	rs758683062
Biobank	rs758683062
1000 genomes	rs758683062
hgdp	rs758683062
ensembl	rs758683062
geneview	rs758683062
scholar	rs758683062
google	rs758683062
pharmgkb	rs758683062
gwascentral	rs758683062
openSNP	rs758683062
23andMe	rs758683062
SNPshot	rs758683062
SNPdbe	rs758683062
MSV3d	rs758683062
GWAS Ctlg	rs758683062

Max Magnitude

4.3

ClinVar
Risk	rs758683062(T;T)
Alt	rs758683062(T;T)
Reference	Rs758683062(C;C)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2 Primary pulmonary hypertension
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2 Primary pulmonary hypertension
Reversed	0
HGVS	NC_000012.11:g.52307459C>T
CLNSRC
CLNACC	RCV000472148.1, RCV000488769.1,