Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142609245
rs142609245
NDUFB3
3 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.700 0
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 0
dbSNP: rs1555703272
rs1555703272
SLC25A10
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs786205225
rs786205225
NDUFB11
4 0.851 0.200 X 47142690 stop gained G/A snv 0.700 0
dbSNP: rs137852863
rs137852863
NDUFAF2
5 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 0.700 1.000 2 2005 2016
dbSNP: rs201430951
rs201430951
NUBPL
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 1.000 1 2016 2016