TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033573
rs111033573
1.000 0.200 10 100989285 missense variant G/A;T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs111033577
rs111033577
1.000 0.200 10 100989352 missense variant T/C;G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887028
rs1554887028
10 100989213 missense variant C/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887097
rs1554887097
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887213
rs1554887213
1.000 0.200 10 100989774 splice acceptor variant G/T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554887222
rs1554887222
10 100989791 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs28937887
rs28937887
1.000 10 100989211 missense variant G/A;T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017