rs1060501419

Orientation

minus

Stabilized

minus

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

Make rs1060501419(G;T)

Make rs1060501419(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127824887

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs1060501419
dbSNP (classic)	rs1060501419
ClinGen	rs1060501419
ebi	rs1060501419
HLI	rs1060501419
Exac	rs1060501419
Gnomad	rs1060501419
Varsome	rs1060501419
LitVar	rs1060501419
Map	rs1060501419
PheGenI	rs1060501419
Biobank	rs1060501419
1000 genomes	rs1060501419
hgdp	rs1060501419
ensembl	rs1060501419
geneview	rs1060501419
scholar	rs1060501419
google	rs1060501419
pharmgkb	rs1060501419
gwascentral	rs1060501419
openSNP	rs1060501419
23andMe	rs1060501419
SNPshot	rs1060501419
SNPdbe	rs1060501419
MSV3d	rs1060501419
GWAS Ctlg	rs1060501419

Max Magnitude

0

ClinVar
Risk	rs1060501419(T;T)
Alt	rs1060501419(T;T)
Reference	Rs1060501419(G;G)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130587166C>A
CLNSRC
CLNACC	RCV000476952.1,