rs121909284

Orientation

plus

Stabilized

plus

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

Make rs121909284(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51916219

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs121909284
dbSNP (classic)	rs121909284
ClinGen	rs121909284
ebi	rs121909284
HLI	rs121909284
Exac	rs121909284
Gnomad	rs121909284
Varsome	rs121909284
LitVar	rs121909284
Map	rs121909284
PheGenI	rs121909284
Biobank	rs121909284
1000 genomes	rs121909284
hgdp	rs121909284
ensembl	rs121909284
geneview	rs121909284
scholar	rs121909284
google	rs121909284
pharmgkb	rs121909284
gwascentral	rs121909284
openSNP	rs121909284
23andMe	rs121909284
SNPshot	rs121909284
SNPdbe	rs121909284
MSV3d	rs121909284
GWAS Ctlg	rs121909284

Merged from

Rs121909290, Rs28936398

Max Magnitude

4.3

OMIM	601284
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909284(A;A) rs121909284(C;C)
Alt	rs121909284(A;A) rs121909284(C;C)
Reference	Rs121909284(G;G)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type II
Reversed	0
HGVS	NC_000012.11:g.52310003G>A; NC_000012.11:g.52310003G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008726.2, RCV000008727.2, RCV000008746.2,

[PMID 30617053] Association of SNPs of BMPR2, ACVRL1, SMAD9  and their interactions with the risk of EH in the Chinese Han population.