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: rs104894270
rs104894270
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 1.000 3 2004 2018
dbSNP: rs142248674
rs142248674
1.000 11 47582124 missense variant C/G;T snv 4.0E-06; 1.6E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.700 1.000 3 2004 2018
dbSNP: rs28939714
rs28939714
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 1.000 3 2004 2018