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: rs74315403
rs74315403
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 0.972 36 1992 2019
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.740 1.000 4 2001 2017
dbSNP: rs868861597
rs868861597
2 0.925 0.120 17 80192587 missense variant G/A snv 4.0E-06 7.0E-06 0.030 0.667 3 1996 1998
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 1993 2003
dbSNP: rs1332033395
rs1332033395
1 1.000 0.080 2 63604822 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1371500051
rs1371500051
APP
1 1.000 0.080 21 26051052 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1447174024
rs1447174024
GPI
1 1.000 0.080 19 34377518 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs1800014
rs1800014
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2003 2003
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs295301
rs295301
5 0.851 0.160 3 141619799 downstream gene variant G/A snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs377316252
rs377316252
1 1.000 0.080 5 116488915 missense variant C/A;T snv 4.8E-06; 1.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs57095329
rs57095329
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs6116475
rs6116475
1 1.000 0.080 20 4696723 intron variant A/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs74315407
rs74315407
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs745339194
rs745339194
1 1.000 0.080 17 45983333 missense variant G/A snv 4.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs773268484
rs773268484
4 0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019