Source: UNIPROT

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: rs137853184
rs137853184
1.000 8 95032093 missense variant A/G snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
0.800 1.000 3 2008 2016
dbSNP: rs201732170
rs201732170
1.000 8 95035527 missense variant T/A;C snv 4.0E-06; 9.2E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
0.700 1.000 3 2008 2016
dbSNP: rs1057519084
rs1057519084
1.000 8 95032023 missense variant T/C snv 7.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
0.800 0
dbSNP: rs1057519085
rs1057519085
1.000 8 95032003 missense variant A/T snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
0.800 0
dbSNP: rs1057519086
rs1057519086
1.000 8 95052177 missense variant A/G snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
0.800 0
dbSNP: rs768273248
rs768273248
1.000 8 95048547 missense variant C/G;T snv 4.0E-06; 8.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
0.800 0