rs863223540

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;GACA)	4.3	Hereditary hemorrhagic telangiectasia
(GACA;GACA)	0	common in clinvar

Make rs863223540(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

127824355

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs863223540
dbSNP (classic)	rs863223540
ClinGen	rs863223540
ebi	rs863223540
HLI	rs863223540
Exac	rs863223540
Gnomad	rs863223540
Varsome	rs863223540
LitVar	rs863223540
Map	rs863223540
PheGenI	rs863223540
Biobank	rs863223540
1000 genomes	rs863223540
hgdp	rs863223540
ensembl	rs863223540
geneview	rs863223540
scholar	rs863223540
google	rs863223540
pharmgkb	rs863223540
gwascentral	rs863223540
openSNP	rs863223540
23andMe	rs863223540
SNPshot	rs863223540
SNPdbe	rs863223540
MSV3d	rs863223540
GWAS Ctlg	rs863223540

Max Magnitude

4.3

ClinVar
Risk	rs863223540(-;-)
Alt	rs863223540(-;-)
Reference	Rs863223540(GACA;GACA)
Significance	Pathogenic
Disease	not provided Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	not provided Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130586634_130586637delTGTC
CLNSRC
CLNACC	RCV000200429.2, RCV000234034.1,