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: rs199683937
rs199683937
NDUFV1
0.925 0.040 11 67611982 splice region variant A/C snv 6.0E-05 4.9E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs201727685
rs201727685
NDUFV1 ; C11orf72
1.000 0.040 11 67608562 missense variant T/A;C snv 1.6E-05; 5.2E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
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: rs118161496
rs118161496
NUBPL
1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
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