rs1060501408

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1060501408(C;T)

Make rs1060501408(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127854482

Gene

ENG

is a	snp
is	mentioned by
dbSNP	rs1060501408
dbSNP (classic)	rs1060501408
ClinGen	rs1060501408
ebi	rs1060501408
HLI	rs1060501408
Exac	rs1060501408
Gnomad	rs1060501408
Varsome	rs1060501408
LitVar	rs1060501408
Map	rs1060501408
PheGenI	rs1060501408
Biobank	rs1060501408
1000 genomes	rs1060501408
hgdp	rs1060501408
ensembl	rs1060501408
geneview	rs1060501408
scholar	rs1060501408
google	rs1060501408
pharmgkb	rs1060501408
gwascentral	rs1060501408
openSNP	rs1060501408
23andMe	rs1060501408
SNPshot	rs1060501408
SNPdbe	rs1060501408
MSV3d	rs1060501408
GWAS Ctlg	rs1060501408

Max Magnitude

0

ClinVar
Risk	rs1060501408(T;T)
Alt	rs1060501408(T;T)
Reference	Rs1060501408(C;C)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130616761G>A
CLNSRC
CLNACC	RCV000463117.1,