rs28936688

Orientation

plus

Stabilized

plus

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

Make rs28936688(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51915483

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs28936688
dbSNP (classic)	rs28936688
ClinGen	rs28936688
ebi	rs28936688
HLI	rs28936688
Exac	rs28936688
Gnomad	rs28936688
Varsome	rs28936688
LitVar	rs28936688
Map	rs28936688
PheGenI	rs28936688
Biobank	rs28936688
1000 genomes	rs28936688
hgdp	rs28936688
ensembl	rs28936688
geneview	rs28936688
scholar	rs28936688
google	rs28936688
pharmgkb	rs28936688
gwascentral	rs28936688
openSNP	rs28936688
23andMe	rs28936688
SNPshot	rs28936688
SNPdbe	rs28936688
MSV3d	rs28936688
GWAS Ctlg	rs28936688

Max Magnitude

4.3

OMIM	601284
Desc	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Variant	0012
Related	also

ClinVar
Risk	rs28936688(A;A)
Alt	rs28936688(A;A)
Reference	Rs28936688(G;G)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	0
HGVS	NC_000012.11:g.52309267G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008742.3, RCV000008743.4,