Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033588
rs111033588
NDUFS8
1.000 11 68036293 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.800 1.000 3 1998 2012
dbSNP: rs121912639
rs121912639
NDUFS8 ; MIR4691 ; MIR7113
1.000 11 68033165 missense variant C/T snv 4.0E-06
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.800 1.000 3 1998 2012
dbSNP: rs28939679
rs28939679
NDUFS8 ; MIR4691 ; MIR7113
0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.800 1.000 3 1998 2012
dbSNP: rs397514617
rs397514617
NDUFS8
1.000 11 68036356 missense variant C/A snv
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.800 1.000 3 1998 2012
dbSNP: rs397514618
rs397514618
NDUFS8 ; MIR4691 ; MIR7113
1.000 11 68033000 missense variant G/C snv 7.0E-06
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.800 1.000 3 1998 2012
dbSNP: rs121912638
rs121912638
NDUFS8 ; MIR4691 ; MIR7113
1.000 11 68033216 missense variant G/A snv 2.0E-05 4.2E-05
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.700 1.000 3 1998 2012
dbSNP: rs146766138
rs146766138
NDUFS8 ; MIR4691 ; MIR7113
1.000 11 68033140 missense variant C/G;T snv 4.0E-05
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.700 1.000 3 1998 2012
dbSNP: rs1267554976
rs1267554976
NDUFS8
1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs28939679
rs28939679
NDUFS8 ; MIR4691 ; MIR7113
0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs764276946
rs764276946
NDUFS8 ; MIR4691 ; MIR7113
1.000 0.120 11 68033254 missense variant A/G snv 2.1E-05 1.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0