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: rs121918134
rs121918134
1.000 3 49022497 missense variant G/A;C snv 4.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
0.800 1.000 2 2009 2017
dbSNP: rs121918135
rs121918135
1.000 3 49022903 missense variant G/C snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
0.800 1.000 2 2009 2017
dbSNP: rs138275059
rs138275059
1.000 3 49023111 missense variant C/G;T snv 4.0E-06; 4.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
0.700 1.000 2 2009 2017