rs1060501412

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127818720

Gene	ENG, LOC102723566

is a	snp
is	mentioned by
dbSNP	rs1060501412
dbSNP (classic)	rs1060501412
ClinGen	rs1060501412
ebi	rs1060501412
HLI	rs1060501412
Exac	rs1060501412
Gnomad	rs1060501412
Varsome	rs1060501412
LitVar	rs1060501412
Map	rs1060501412
PheGenI	rs1060501412
Biobank	rs1060501412
1000 genomes	rs1060501412
hgdp	rs1060501412
ensembl	rs1060501412
geneview	rs1060501412
scholar	rs1060501412
google	rs1060501412
pharmgkb	rs1060501412
gwascentral	rs1060501412
openSNP	rs1060501412
23andMe	rs1060501412
SNPshot	rs1060501412
SNPdbe	rs1060501412
MSV3d	rs1060501412
GWAS Ctlg	rs1060501412

Max Magnitude

0

ClinVar
Risk	rs1060501412(-;-)
Alt	rs1060501412(-;-)
Reference	Rs1060501412(AGAGCTTTGT;AGAGCTTTGT)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG LOC102723566
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130580999_130581008delACAAAGCTCT
CLNSRC
CLNACC	RCV000457213.1,