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: rs397514727
rs397514727
COQ2
1 1.000 4 83267659 missense variant A/G snv 0.800 1.000 1 2013 2013
dbSNP: rs751185256
rs751185256
COQ2
2 0.925 0.160 4 83264306 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs763562410
rs763562410
COQ2
1 1.000 4 83264305 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs778094136
rs778094136
COQ2
1 1.000 4 83284533 missense variant T/C;G snv 5.0E-05; 5.5E-06 0.700 0