rs121918401

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

127819934

Gene	ENG, LOC102723566

is a	snp
is	mentioned by
dbSNP	rs121918401
dbSNP (classic)	rs121918401
ClinGen	rs121918401
ebi	rs121918401
HLI	rs121918401
Exac	rs121918401
Gnomad	rs121918401
Varsome	rs121918401
LitVar	rs121918401
Map	rs121918401
PheGenI	rs121918401
Biobank	rs121918401
1000 genomes	rs121918401
hgdp	rs121918401
ensembl	rs121918401
geneview	rs121918401
scholar	rs121918401
google	rs121918401
pharmgkb	rs121918401
gwascentral	rs121918401
openSNP	rs121918401
23andMe	rs121918401
SNPshot	rs121918401
SNPdbe	rs121918401
MSV3d	rs121918401
GWAS Ctlg	rs121918401

Max Magnitude

4.3

OMIM	131195
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918401(A;A) Rs121918401(T;T)
Alt	rs121918401(A;A) Rs121918401(T;T)
Reference	Rs121918401(G;G)
Significance	Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG LOC102723566
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	1
HGVS	NC_000009.11:g.130582213C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018154.28,