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: 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: 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: rs587776949
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs398124308
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2012 2012
dbSNP: rs1445075330
rs1445075330
NDUFS4
1.000 0.040 5 53683157 frameshift variant -/AAGTC delins 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0