rs267606783
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 4.3 | |
(G;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
(T;T) | 0 | common in clinvar |
Make rs267606783(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 127854354 |
Gene | ENG |
is a | snp |
is | mentioned by |
dbSNP | rs267606783 |
dbSNP (classic) | rs267606783 |
ClinGen | rs267606783 |
ebi | rs267606783 |
HLI | rs267606783 |
Exac | rs267606783 |
Gnomad | rs267606783 |
Varsome | rs267606783 |
LitVar | rs267606783 |
Map | rs267606783 |
PheGenI | rs267606783 |
Biobank | rs267606783 |
1000 genomes | rs267606783 |
hgdp | rs267606783 |
ensembl | rs267606783 |
geneview | rs267606783 |
scholar | rs267606783 |
rs267606783 | |
pharmgkb | rs267606783 |
gwascentral | rs267606783 |
openSNP | rs267606783 |
23andMe | rs267606783 |
SNPshot | rs267606783 |
SNPdbe | rs267606783 |
MSV3d | rs267606783 |
GWAS Ctlg | rs267606783 |
Max Magnitude | 4.3 |
ClinVar | |
---|---|
Risk | rs267606783(C;C) |
Alt | rs267606783(C;C) |
Reference | Rs267606783(T;T) |
Significance | Pathogenic |
Disease | Osler hemorrhagic telangiectasia syndrome |
Variation | info |
Gene | ENG |
CLNDBN | Osler hemorrhagic telangiectasia syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.130616633A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018153.28, |