rs1085307430

Orientation

minus

Stabilized

minus

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

Chromosome

9

Position

127825698

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs1085307430
dbSNP (classic)	rs1085307430
ClinGen	rs1085307430
ebi	rs1085307430
HLI	rs1085307430
Exac	rs1085307430
Gnomad	rs1085307430
Varsome	rs1085307430
LitVar	rs1085307430
Map	rs1085307430
PheGenI	rs1085307430
Biobank	rs1085307430
1000 genomes	rs1085307430
hgdp	rs1085307430
ensembl	rs1085307430
geneview	rs1085307430
scholar	rs1085307430
google	rs1085307430
pharmgkb	rs1085307430
gwascentral	rs1085307430
openSNP	rs1085307430
23andMe	rs1085307430
SNPshot	rs1085307430
SNPdbe	rs1085307430
MSV3d	rs1085307430
GWAS Ctlg	rs1085307430

Max Magnitude

0

ClinVar
Risk	rs1085307430(-;-)
Alt	rs1085307430(-;-)
Reference	Rs1085307430(TCGGC;TCGGC)
Significance	Pathogenic
Disease	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ENG
CLNDBN	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	1
HGVS	NC_000009.11:g.130587977_130587981delGCCGA
CLNSRC
CLNACC	RCV000488603.1,