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: rs121918231
rs121918231
COQ2
2 0.925 0.160 4 83273598 missense variant C/T snv 8.0E-06 2.8E-05 0.700 1.000 3 2007 2016
dbSNP: rs1161445886
rs1161445886
COQ2
1 1.000 4 83269918 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs121918230
rs121918230
COQ2
1 1.000 4 83269882 missense variant T/C snv 4.1E-06 0.700 0
dbSNP: rs121918233
rs121918233
COQ2
2 0.925 0.160 4 83279081 missense variant C/T snv 1.4E-05 2.1E-05 0.700 0
dbSNP: rs1558212305
rs1558212305
COQ8A
1 1.000 1 226986807 3 prime UTR variant -/G delins 0.700 0
dbSNP: rs750710187
rs750710187
COQ2
1 1.000 4 83264268 frameshift variant A/- delins 1.2E-05 1.4E-05 0.700 0