rs28936401

Orientation

plus

Stabilized

plus

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

Make rs28936401(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51916107

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs28936401
dbSNP (classic)	rs28936401
ClinGen	rs28936401
ebi	rs28936401
HLI	rs28936401
Exac	rs28936401
Gnomad	rs28936401
Varsome	rs28936401
LitVar	rs28936401
Map	rs28936401
PheGenI	rs28936401
Biobank	rs28936401
1000 genomes	rs28936401
hgdp	rs28936401
ensembl	rs28936401
geneview	rs28936401
scholar	rs28936401
google	rs28936401
pharmgkb	rs28936401
gwascentral	rs28936401
openSNP	rs28936401
23andMe	rs28936401
SNPshot	rs28936401
SNPdbe	rs28936401
MSV3d	rs28936401
GWAS Ctlg	rs28936401

Max Magnitude

4.3

OMIM	601284
Desc	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Variant	0007
Related	also

ClinVar
Risk	rs28936401(T;T)
Alt	rs28936401(T;T)
Reference	Rs28936401(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.52309891C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008733.2, RCV000008734.4, RCV000330901.1,