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: rs387906873
rs387906873 		1.000 2 240021232 missense variant T/C snv
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.800 1.000 2 2011 2016
dbSNP: rs1057519414
rs1057519414 		1.000 2 240005219 missense variant A/G snv
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.800 0
dbSNP: rs1057519415
rs1057519415 		1.000 2 240021272 inframe insertion -/TTA delins
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.700 0
dbSNP: rs387906872
rs387906872 		1.000 2 240025301 start lost T/C snv 2.9E-05 1.4E-05
CUI: C4748796
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.700 0