rs121909288

Orientation

plus

Stabilized

plus

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

Make rs121909288(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51920831

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs121909288
dbSNP (classic)	rs121909288
ClinGen	rs121909288
ebi	rs121909288
HLI	rs121909288
Exac	rs121909288
Gnomad	rs121909288
Varsome	rs121909288
LitVar	rs121909288
Map	rs121909288
PheGenI	rs121909288
Biobank	rs121909288
1000 genomes	rs121909288
hgdp	rs121909288
ensembl	rs121909288
geneview	rs121909288
scholar	rs121909288
google	rs121909288
pharmgkb	rs121909288
gwascentral	rs121909288
openSNP	rs121909288
23andMe	rs121909288
SNPshot	rs121909288
SNPdbe	rs121909288
MSV3d	rs121909288
GWAS Ctlg	rs121909288

Max Magnitude

4.3

OMIM	601284
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909288(G;G) rs121909288(T;T)
Alt	rs121909288(G;G) rs121909288(T;T)
Reference	Rs121909288(C;C)
Significance	Pathogenic
Disease	Primary pulmonary hypertension Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	Primary pulmonary hypertension Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	0
HGVS	NC_000012.11:g.52314615C>G; NC_000012.11:g.52314615C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000488804.1, RCV000008739.2, RCV000008740.3,