Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775445970
rs775445970
POLG
C 0.700 CausalMutation CLINVAR Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 19478085

2009
dbSNP: rs775445970
rs775445970
POLG
C 0.700 CausalMutation CLINVAR Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 18487244

2008
dbSNP: rs775445970
rs775445970
POLG
C 0.700 CausalMutation CLINVAR Juvenile Alpers disease. 18195149

2008