rs1060501418

Orientation

minus

Stabilized

minus

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

Make rs1060501418(A;G)

Make rs1060501418(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127854355

Gene

ENG

is a	snp
is	mentioned by
dbSNP	rs1060501418
dbSNP (classic)	rs1060501418
ClinGen	rs1060501418
ebi	rs1060501418
HLI	rs1060501418
Exac	rs1060501418
Gnomad	rs1060501418
Varsome	rs1060501418
LitVar	rs1060501418
Map	rs1060501418
PheGenI	rs1060501418
Biobank	rs1060501418
1000 genomes	rs1060501418
hgdp	rs1060501418
ensembl	rs1060501418
geneview	rs1060501418
scholar	rs1060501418
google	rs1060501418
pharmgkb	rs1060501418
gwascentral	rs1060501418
openSNP	rs1060501418
23andMe	rs1060501418
SNPshot	rs1060501418
SNPdbe	rs1060501418
MSV3d	rs1060501418
GWAS Ctlg	rs1060501418

Max Magnitude

0

ClinVar
Risk	rs1060501418(G;G)
Alt	rs1060501418(G;G)
Reference	Rs1060501418(A;A)
Significance	Probable-Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130616634T>C
CLNSRC
CLNACC	RCV000469330.1,