rs387906393

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GAC)	4.3	Hereditary hemorrhagic telangiectasia
(ACG;ACG)	0	common in clinvar
(GAC;GAC)	0	common in clinvar

Make rs387906393(-;-)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51914573

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs387906393
dbSNP (classic)	rs387906393
ClinGen	rs387906393
ebi	rs387906393
HLI	rs387906393
Exac	rs387906393
Gnomad	rs387906393
Varsome	rs387906393
LitVar	rs387906393
Map	rs387906393
PheGenI	rs387906393
Biobank	rs387906393
1000 genomes	rs387906393
hgdp	rs387906393
ensembl	rs387906393
geneview	rs387906393
scholar	rs387906393
google	rs387906393
pharmgkb	rs387906393
gwascentral	rs387906393
openSNP	rs387906393
23andMe	rs387906393
SNPshot	rs387906393
SNPdbe	rs387906393
MSV3d	rs387906393
GWAS Ctlg	rs387906393

Max Magnitude

4.3

ClinVar
Risk	rs387906393(-;-)
Alt	rs387906393(-;-)
Reference	Rs387906393(ACG;ACG)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	0
HGVS	NC_000012.11:g.52308357_52308359delGAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008735.3, RCV000008736.2,