rs267606783

Orientation

minus

Stabilized

minus

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

Make rs267606783(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127854354

Gene

ENG

is a	snp
is	mentioned by
dbSNP	rs267606783
dbSNP (classic)	rs267606783
ClinGen	rs267606783
ebi	rs267606783
HLI	rs267606783
Exac	rs267606783
Gnomad	rs267606783
Varsome	rs267606783
LitVar	rs267606783
Map	rs267606783
PheGenI	rs267606783
Biobank	rs267606783
1000 genomes	rs267606783
hgdp	rs267606783
ensembl	rs267606783
geneview	rs267606783
scholar	rs267606783
google	rs267606783
pharmgkb	rs267606783
gwascentral	rs267606783
openSNP	rs267606783
23andMe	rs267606783
SNPshot	rs267606783
SNPdbe	rs267606783
MSV3d	rs267606783
GWAS Ctlg	rs267606783

Max Magnitude

4.3

ClinVar
Risk	rs267606783(C;C)
Alt	rs267606783(C;C)
Reference	Rs267606783(T;T)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130616633A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018153.28,