Disease: Mitochondrial abnormalities
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv 42
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv 11
rs1314736087
SYBU
0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 5