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: rs201757275
rs201757275
EPG5
2 0.925 0.200 18 45954395 missense variant T/C snv 7.3E-05 2.1E-05 0.800 1.000 6 2013 2018
dbSNP: rs754795342
rs754795342
EPG5
1 1.000 0.160 18 45930737 missense variant T/G snv 1.2E-05 1.4E-05 0.700 1.000 6 2013 2018
dbSNP: rs1470797555
rs1470797555
EPG5
1 1.000 0.160 18 45951239 splice acceptor variant C/T snv 0.700 1.000 2 2013 2013
dbSNP: rs587776940
rs587776940
EPG5
1 1.000 0.160 18 45916110 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 2 2013 2016
dbSNP: rs863225064
rs863225064
EPG5
1 1.000 0.160 18 45855683 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2014 2016
dbSNP: rs1555673917
rs1555673917
EPG5
1 1.000 0.160 18 45913824 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1568107449
rs1568107449
EPG5
1 1.000 0.160 18 45870708 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1568112516
rs1568112516
EPG5
1 1.000 0.160 18 45876292 stop gained G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1568112543
rs1568112543
EPG5
1 1.000 0.160 18 45876319 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1568118775
rs1568118775
EPG5
1 1.000 0.160 18 45882313 missense variant G/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1568133724
rs1568133724
EPG5
1 1.000 0.160 18 45899430 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1568133760
rs1568133760
EPG5
1 1.000 0.160 18 45899462 stop gained A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs587776939
rs587776939
EPG5
1 1.000 0.160 18 45901054 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs587776941
rs587776941
EPG5
1 1.000 0.160 18 45925881 stop gained C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs587776942
rs587776942
EPG5
1 1.000 0.160 18 45867742 stop gained G/A snv 1.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs762639913
rs762639913
EPG5
1 1.000 0.160 18 45949543 frameshift variant GAAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs767638289
rs767638289
EPG5
1 1.000 0.160 18 45954507 stop gained G/A;C snv 1.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs780889226
rs780889226
EPG5
1 1.000 0.160 18 45857962 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs866435487
rs866435487
EPG5
1 1.000 0.160 18 45955266 stop gained G/A snv 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs961245497
rs961245497
EPG5
1 1.000 0.160 18 45952403 stop gained G/A snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057519318
rs1057519318
EPG5
1 1.000 0.160 18 45899548 frameshift variant T/- delins 0.700 0
dbSNP: rs1085308061
rs1085308061
EPG5
1 1.000 0.160 18 45910719 missense variant C/T snv 0.700 0
dbSNP: rs1085308062
rs1085308062
EPG5
1 1.000 0.160 18 45930734 frameshift variant -/C delins 0.700 0
dbSNP: rs1203870830
rs1203870830
EPG5
1 1.000 0.160 18 45948573 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1555673890
rs1555673890
EPG5
1 1.000 0.160 18 45913732 stop gained -/GAGTTTATCACCAATTCCCCTTCAATAA delins 0.700 0