rs121909287

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4

Make rs121909287(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51916218

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs121909287
dbSNP (classic)	rs121909287
ClinGen	rs121909287
ebi	rs121909287
HLI	rs121909287
Exac	rs121909287
Gnomad	rs121909287
Varsome	rs121909287
LitVar	rs121909287
Map	rs121909287
PheGenI	rs121909287
Biobank	rs121909287
1000 genomes	rs121909287
hgdp	rs121909287
ensembl	rs121909287
geneview	rs121909287
scholar	rs121909287
google	rs121909287
pharmgkb	rs121909287
gwascentral	rs121909287
openSNP	rs121909287
23andMe	rs121909287
SNPshot	rs121909287
SNPdbe	rs121909287
MSV3d	rs121909287
GWAS Ctlg	rs121909287

Max Magnitude

4

OMIM	601284
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121909287(T;T)
Alt	rs121909287(T;T)
Reference	Rs121909287(C;C)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia not provided
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia not provided
Reversed	0
HGVS	NC_000012.11:g.52310002C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008737.2, RCV000008738.2, RCV000199381.1,

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