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: rs199422224
rs199422224
NDUFS1
1.000 2 206145009 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.800 0
dbSNP: rs199422225
rs199422225
NDUFS1
1.000 2 206146919 missense variant G/A snv 7.0E-06
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.800 0
dbSNP: rs370411488
rs370411488
NDUFS1
1.000 2 206146957 missense variant A/G snv 8.4E-05 1.2E-04
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 1.000 3 2009 2011
dbSNP: rs13393316
rs13393316
NDUFS1
1.000 0.120 2 206134615 intron variant A/G snv 0.14
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 1 2018 2018
dbSNP: rs1485032272
rs1485032272
NDUFS1
1.000 0.040 2 206144919 missense variant T/A;C snv 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs149271416
rs149271416
NDUFS1
1.000 2 206141981 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 0
dbSNP: rs199422226
rs199422226
NDUFS1
1.000 2 206146949 missense variant G/A;C snv 1.6E-05
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 0
dbSNP: rs372691318
rs372691318
NDUFS1
1.000 2 206130127 stop gained G/A;C snv 8.0E-06; 8.0E-06
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 0
dbSNP: rs387907199
rs387907199
NDUFS1
0.882 0.040 2 206127898 missense variant T/C snv 4.0E-06
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 0
dbSNP: rs397515383
rs397515383
NDUFS1
1.000 2 206146972 inframe deletion GAT/- delins
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 0
dbSNP: rs397515447
rs397515447
NDUFS1
1.000 2 206127826 missense variant C/T snv
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 		0.700 0
dbSNP: rs750971390
rs750971390
NDUFS1
1.000 0.040 2 206152508 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs786205666
rs786205666
NDUFS1
0.925 0.200 2 206145006 missense variant A/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 0
dbSNP: rs786205666
rs786205666
NDUFS1
0.925 0.200 2 206145006 missense variant A/C snv
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		0.700 0