rs113994095
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | POLG-related disorders, including ataxias |
(A;G) | 3 | Carrier of a POLG mutation associated with ataxias |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 89327201 |
Gene | MIR6766, POLG |
is a | snp |
is | mentioned by |
dbSNP | rs113994095 |
dbSNP (classic) | rs113994095 |
ClinGen | rs113994095 |
ebi | rs113994095 |
HLI | rs113994095 |
Exac | rs113994095 |
Gnomad | rs113994095 |
Varsome | rs113994095 |
LitVar | rs113994095 |
Map | rs113994095 |
PheGenI | rs113994095 |
Biobank | rs113994095 |
1000 genomes | rs113994095 |
hgdp | rs113994095 |
ensembl | rs113994095 |
geneview | rs113994095 |
scholar | rs113994095 |
rs113994095 | |
pharmgkb | rs113994095 |
gwascentral | rs113994095 |
openSNP | rs113994095 |
23andMe | rs113994095 |
SNPshot | rs113994095 |
SNPdbe | rs113994095 |
MSV3d | rs113994095 |
GWAS Ctlg | rs113994095 |
GMAF | 0.0004591 |
Max Magnitude | 7 |
rs113994095, also known as c.1399G>A, p.Ala467Thr and A467T, represents a mutation in the POLG gene on chromosome 15.
Inherited in a recessive manner, the uncommon rs113994095(A) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).