rs121909289

Orientation

plus

Stabilized

plus

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

Make rs121909289(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51916183

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs121909289
dbSNP (classic)	rs121909289
ClinGen	rs121909289
ebi	rs121909289
HLI	rs121909289
Exac	rs121909289
Gnomad	rs121909289
Varsome	rs121909289
LitVar	rs121909289
Map	rs121909289
PheGenI	rs121909289
Biobank	rs121909289
1000 genomes	rs121909289
hgdp	rs121909289
ensembl	rs121909289
geneview	rs121909289
scholar	rs121909289
google	rs121909289
pharmgkb	rs121909289
gwascentral	rs121909289
openSNP	rs121909289
23andMe	rs121909289
SNPshot	rs121909289
SNPdbe	rs121909289
MSV3d	rs121909289
GWAS Ctlg	rs121909289

Merged from

Rs28936402

Max Magnitude

4.3

OMIM	601284
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121909289(C;C) rs121909289(T;T)
Alt	rs121909289(C;C) rs121909289(T;T)
Reference	Rs121909289(G;G)
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.52309967G>C; NC_000012.11:g.52309967G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008744.3, RCV000488470.1,