rs1060501417

Orientation

minus

Stabilized

minus

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

Make rs1060501417(C;C)

Make rs1060501417(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127829682

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs1060501417
dbSNP (classic)	rs1060501417
ClinGen	rs1060501417
ebi	rs1060501417
HLI	rs1060501417
Exac	rs1060501417
Gnomad	rs1060501417
Varsome	rs1060501417
LitVar	rs1060501417
Map	rs1060501417
PheGenI	rs1060501417
Biobank	rs1060501417
1000 genomes	rs1060501417
hgdp	rs1060501417
ensembl	rs1060501417
geneview	rs1060501417
scholar	rs1060501417
google	rs1060501417
pharmgkb	rs1060501417
gwascentral	rs1060501417
openSNP	rs1060501417
23andMe	rs1060501417
SNPshot	rs1060501417
SNPdbe	rs1060501417
MSV3d	rs1060501417
GWAS Ctlg	rs1060501417

Max Magnitude

0

ClinVar
Risk	rs1060501417(C;C)
Alt	rs1060501417(C;C)
Reference	Rs1060501417(G;G)
Significance	Probable-Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome not provided
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome not provided
Reversed	1
HGVS	NC_000009.11:g.130591961C>G
CLNSRC
CLNACC	RCV000477368.1, RCV000485643.1,