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: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2012 2012
dbSNP: rs752513525
rs752513525
NDUFA13
0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2015 2015
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2016 2016
dbSNP: rs1555703272
rs1555703272
SLC25A10
0.925 0.080 17 81715568 stop gained A/T snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2018 2018
dbSNP: rs1135402749
rs1135402749
NDUFV1
1.000 0.040 11 67611934 missense variant T/C snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.710 1.000 0 2018 2018