rs121918402

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	4.3	Hereditary hemorrhagic telangiectasia
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

127829687

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs121918402
dbSNP (classic)	rs121918402
ClinGen	rs121918402
ebi	rs121918402
HLI	rs121918402
Exac	rs121918402
Gnomad	rs121918402
Varsome	rs121918402
LitVar	rs121918402
Map	rs121918402
PheGenI	rs121918402
Biobank	rs121918402
1000 genomes	rs121918402
hgdp	rs121918402
ensembl	rs121918402
geneview	rs121918402
scholar	rs121918402
google	rs121918402
pharmgkb	rs121918402
gwascentral	rs121918402
openSNP	rs121918402
23andMe	rs121918402
SNPshot	rs121918402
SNPdbe	rs121918402
MSV3d	rs121918402
GWAS Ctlg	rs121918402

Max Magnitude

4.3

OMIM	131195
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs121918402(A;A) rs121918402(T;T)
Alt	Rs121918402(A;A) rs121918402(T;T)
Reference	Rs121918402(C;C)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130591966G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018156.28,