rs1060501414

Orientation

minus

Stabilized

minus

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

Make rs1060501414(A;G)

Make rs1060501414(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127825862

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs1060501414
dbSNP (classic)	rs1060501414
ClinGen	rs1060501414
ebi	rs1060501414
HLI	rs1060501414
Exac	rs1060501414
Gnomad	rs1060501414
Varsome	rs1060501414
LitVar	rs1060501414
Map	rs1060501414
PheGenI	rs1060501414
Biobank	rs1060501414
1000 genomes	rs1060501414
hgdp	rs1060501414
ensembl	rs1060501414
geneview	rs1060501414
scholar	rs1060501414
google	rs1060501414
pharmgkb	rs1060501414
gwascentral	rs1060501414
openSNP	rs1060501414
23andMe	rs1060501414
SNPshot	rs1060501414
SNPdbe	rs1060501414
MSV3d	rs1060501414
GWAS Ctlg	rs1060501414

Max Magnitude

0

ClinVar
Risk	rs1060501414(G;G)
Alt	rs1060501414(G;G)
Reference	Rs1060501414(A;A)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130588141T>C
CLNSRC
CLNACC	RCV000458484.1,