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: rs104894705
rs104894705
NDUFS7
0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.800 1.000 2 1999 1999
dbSNP: rs121434479
rs121434479
NDUFS7
1.000 19 1391144 missense variant G/A snv 7.0E-06
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.700 0
dbSNP: rs1568985256
rs1568985256
NDUFS7
1.000 19 1386644 splice region variant C/G snv
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.700 0