rs1064792934

Orientation

minus

Stabilized

minus

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

Chromosome

9

Position

127824378

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs1064792934
dbSNP (classic)	rs1064792934
ClinGen	rs1064792934
ebi	rs1064792934
HLI	rs1064792934
Exac	rs1064792934
Gnomad	rs1064792934
Varsome	rs1064792934
LitVar	rs1064792934
Map	rs1064792934
PheGenI	rs1064792934
Biobank	rs1064792934
1000 genomes	rs1064792934
hgdp	rs1064792934
ensembl	rs1064792934
geneview	rs1064792934
scholar	rs1064792934
google	rs1064792934
pharmgkb	rs1064792934
gwascentral	rs1064792934
openSNP	rs1064792934
23andMe	rs1064792934
SNPshot	rs1064792934
SNPdbe	rs1064792934
MSV3d	rs1064792934
GWAS Ctlg	rs1064792934

Max Magnitude

0

ClinVar
Risk	rs1064792934(ATGGTGG;ATGGTGG)
Alt	rs1064792934(ATGGTGG;ATGGTGG)
Reference	Rs1064792934(CACTCCTCCCAAGGACACTTGTAGCCCGGAGC;CACTCCTCCCAAGGACACTTGTAGCCCGGAGC)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130586657_130586688del32insCCACCAT
CLNSRC
CLNACC	RCV000464962.1,