rs730880096

Orientation

minus

Stabilized

minus

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

Make rs730880096(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

127829788

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs730880096
dbSNP (classic)	rs730880096
ClinGen	rs730880096
ebi	rs730880096
HLI	rs730880096
Exac	rs730880096
Gnomad	rs730880096
Varsome	rs730880096
LitVar	rs730880096
Map	rs730880096
PheGenI	rs730880096
Biobank	rs730880096
1000 genomes	rs730880096
hgdp	rs730880096
ensembl	rs730880096
geneview	rs730880096
scholar	rs730880096
google	rs730880096
pharmgkb	rs730880096
gwascentral	rs730880096
openSNP	rs730880096
23andMe	rs730880096
SNPshot	rs730880096
SNPdbe	rs730880096
MSV3d	rs730880096
GWAS Ctlg	rs730880096

Max Magnitude

4.3

ClinVar
Risk	rs730880096(T;T)
Alt	rs730880096(T;T)
Reference	Rs730880096(C;C)
Significance	Probable-Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130592067G>A
CLNSRC
CLNACC	RCV000157221.2,