Source: CLINVAR

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: rs757043077
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05
CUI: C4748785
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 		0.800 1.000 0 2008 2012
dbSNP: rs757043077
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2012 2012