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: rs121918134
rs121918134 		1.000 3 49022497 missense variant G/A;C snv 4.0E-06
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.800 1.000 2 2009 2017
dbSNP: rs121918135
rs121918135 		1.000 3 49022903 missense variant G/C snv
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.800 1.000 2 2009 2017
dbSNP: rs138275059
rs138275059 		1.000 3 49023111 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.700 1.000 2 2009 2017
dbSNP: rs121918136
rs121918136 		1.000 3 49022146 start lost T/C;G snv 8.5E-06
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.700 0