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: rs63750526
rs63750526
10 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2006 2006
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2272127
rs2272127
3 1.000 0.080 2 102423413 intron variant C/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs762060740
rs762060740
6 0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs13139310
rs13139310
3 0.925 0.120 4 184435757 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs157580
rs157580
14 0.882 0.160 19 44892009 intron variant G/A snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1859788
rs1859788
3 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2018 2018
dbSNP: rs387906758
rs387906758
6 0.851 0.080 2 190995185 missense variant G/A;C snv 0.010 < 0.001 1 2019 2019