rs144181978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs144181978(A;A) |
Make rs144181978(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 73950603 |
Gene | DGUOK |
is a | snp |
is | mentioned by |
dbSNP | rs144181978 |
dbSNP (classic) | rs144181978 |
ClinGen | rs144181978 |
ebi | rs144181978 |
HLI | rs144181978 |
Exac | rs144181978 |
Gnomad | rs144181978 |
Varsome | rs144181978 |
LitVar | rs144181978 |
Map | rs144181978 |
PheGenI | rs144181978 |
Biobank | rs144181978 |
1000 genomes | rs144181978 |
hgdp | rs144181978 |
ensembl | rs144181978 |
geneview | rs144181978 |
scholar | rs144181978 |
rs144181978 | |
pharmgkb | rs144181978 |
gwascentral | rs144181978 |
openSNP | rs144181978 |
23andMe | rs144181978 |
SNPshot | rs144181978 |
SNPdbe | rs144181978 |
MSV3d | rs144181978 |
GWAS Ctlg | rs144181978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144181978(A;A) |
Alt | rs144181978(A;A) |
Reference | Rs144181978(T;T) |
Significance | Pathogenic |
Disease | not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions |
Variation | info |
Gene | DGUOK |
CLNDBN | not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
Reversed | 0 |
HGVS | NC_000002.11:g.74177730T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000195764.3, RCV000239593.1, |