rs121918400

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

127824960

Gene	ENG, LOC105379841

is a	snp
is	mentioned by
dbSNP	rs121918400
dbSNP (classic)	rs121918400
ClinGen	rs121918400
ebi	rs121918400
HLI	rs121918400
Exac	rs121918400
Gnomad	rs121918400
Varsome	rs121918400
LitVar	rs121918400
Map	rs121918400
PheGenI	rs121918400
Biobank	rs121918400
1000 genomes	rs121918400
hgdp	rs121918400
ensembl	rs121918400
geneview	rs121918400
scholar	rs121918400
google	rs121918400
pharmgkb	rs121918400
gwascentral	rs121918400
openSNP	rs121918400
23andMe	rs121918400
SNPshot	rs121918400
SNPdbe	rs121918400
MSV3d	rs121918400
GWAS Ctlg	rs121918400

Max Magnitude

4.3

OMIM	131195
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121918400(G;G) rs121918400(T;T)
Alt	Rs121918400(G;G) rs121918400(T;T)
Reference	Rs121918400(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.130587239G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018148.28,