rs28936399

Orientation

plus

Stabilized

plus

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

Make rs28936399(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51916114

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs28936399
dbSNP (classic)	rs28936399
ClinGen	rs28936399
ebi	rs28936399
HLI	rs28936399
Exac	rs28936399
Gnomad	rs28936399
Varsome	rs28936399
LitVar	rs28936399
Map	rs28936399
PheGenI	rs28936399
Biobank	rs28936399
1000 genomes	rs28936399
hgdp	rs28936399
ensembl	rs28936399
geneview	rs28936399
scholar	rs28936399
google	rs28936399
pharmgkb	rs28936399
gwascentral	rs28936399
openSNP	rs28936399
23andMe	rs28936399
SNPshot	rs28936399
SNPdbe	rs28936399
MSV3d	rs28936399
GWAS Ctlg	rs28936399

Max Magnitude

4.3

OMIM	601284
Desc	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Variant	0002
Related	also

ClinVar
Risk	rs28936399(G;G)
Alt	rs28936399(G;G)
Reference	Rs28936399(T;T)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2
Reversed	0
HGVS	NC_000012.11:g.52309898T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008728.2,