rs28936687

Orientation

plus

Stabilized

plus

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

Make rs28936687(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51914445

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs28936687
dbSNP (classic)	rs28936687
ClinGen	rs28936687
ebi	rs28936687
HLI	rs28936687
Exac	rs28936687
Gnomad	rs28936687
Varsome	rs28936687
LitVar	rs28936687
Map	rs28936687
PheGenI	rs28936687
Biobank	rs28936687
1000 genomes	rs28936687
hgdp	rs28936687
ensembl	rs28936687
geneview	rs28936687
scholar	rs28936687
google	rs28936687
pharmgkb	rs28936687
gwascentral	rs28936687
openSNP	rs28936687
23andMe	rs28936687
SNPshot	rs28936687
SNPdbe	rs28936687
MSV3d	rs28936687
GWAS Ctlg	rs28936687

Max Magnitude

4.3

aka c.632G>A (p.Gly211Asp)

OMIM	601284
Desc	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. Most common symptom is nosebleeds. https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia
Variant	0011
Related	also

ClinVar
Risk	rs28936687(A;A)
Alt	rs28936687(A;A)
Reference	Rs28936687(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.52308229G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008741.3,