rs121918053
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918053(C;T) |
Make rs121918053(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89321777 |
Gene | POLG |
is a | snp |
is | mentioned by |
dbSNP | rs121918053 |
dbSNP (classic) | rs121918053 |
ClinGen | rs121918053 |
ebi | rs121918053 |
HLI | rs121918053 |
Exac | rs121918053 |
Gnomad | rs121918053 |
Varsome | rs121918053 |
LitVar | rs121918053 |
Map | rs121918053 |
PheGenI | rs121918053 |
Biobank | rs121918053 |
1000 genomes | rs121918053 |
hgdp | rs121918053 |
ensembl | rs121918053 |
geneview | rs121918053 |
scholar | rs121918053 |
rs121918053 | |
pharmgkb | rs121918053 |
gwascentral | rs121918053 |
openSNP | rs121918053 |
23andMe | rs121918053 |
SNPshot | rs121918053 |
SNPdbe | rs121918053 |
MSV3d | rs121918053 |
GWAS Ctlg | rs121918053 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918053(T;T) |
Alt | rs121918053(T;T) |
Reference | Rs121918053(C;C) |
Significance | Pathogenic |
Disease | Cerebellar ataxia infantile with progressive external ophthalmoplegia |
Variation | info |
Gene | POLG |
CLNDBN | Cerebellar ataxia infantile with progressive external ophthalmoplegia |
Reversed | 1 |
HGVS | NC_000015.9:g.89865008G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014466.27, |