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: rs61995958
rs61995958
COQ8A
1 1.000 0.080 1 226986598 missense variant C/A;G;T snv 3.2E-05; 3.2E-05; 2.4E-05 0.700 1.000 9 2008 2016
dbSNP: rs778798354
rs778798354
COQ8A
1 1.000 0.080 1 226982734 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 9 2008 2016
dbSNP: rs1085307053
rs1085307053
COQ8A
1 1.000 0.080 1 226982960 frameshift variant T/- delins 0.700 1.000 1 2008 2008
dbSNP: rs387906298
rs387906298
COQ8A
1 1.000 0.080 1 226986604 frameshift variant -/G delins 0.700 1.000 1 2008 2008
dbSNP: rs41303129
rs41303129
COQ8A
1 1.000 0.080 1 226982947 synonymous variant C/T snv 1.6E-02 1.4E-02 0.700 1.000 1 2008 2008
dbSNP: rs606231138
rs606231138
COQ8A
1 1.000 0.080 1 226984237 splice donor variant T/C snv 0.700 1.000 1 2008 2008
dbSNP: rs1057519344
rs1057519344
COQ8A
1 1.000 0.080 1 226983549 splice region variant -/GTA delins 0.700 1.000 1 2013 2013