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: rs2391191
rs2391191
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.010 1.000 1 2016 2016
dbSNP: rs923630119
rs923630119
1 1.000 0.080 7 12215024 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1426802434
rs1426802434
1 1.000 0.080 2 127070588 missense variant A/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs374263073
rs374263073
3 0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs143061887
rs143061887
3 0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs140501902
rs140501902
6 0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2010
dbSNP: rs63750812
rs63750812
2 0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs1163242089
rs1163242089
1 1.000 0.080 1 226885673 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs533813519
rs533813519
5 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1347757721
rs1347757721
1 1.000 0.080 1 226894058 missense variant G/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs200169735
rs200169735
2 0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs63750666
rs63750666
2 0.925 0.080 1 226895521 missense variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs63750110
rs63750110
1 1.000 0.080 1 226895548 missense variant A/C snv 3.6E-05 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs367709245
rs367709245
APP
1 1.000 0.080 21 25891634 intron variant TACTTA/- delins 2.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs63751122
rs63751122
APP
2 0.925 0.080 21 25891765 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.080 1.000 8 1996 2019
dbSNP: rs63750399
rs63750399
APP
3 0.882 0.080 21 25891787 missense variant T/A;C snv 0.010 1.000 1 1997 1997
dbSNP: rs63750734
rs63750734
APP
4 0.851 0.080 21 25891790 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.700 1.000 10 1992 2018
dbSNP: rs63750921
rs63750921
APP
4 0.882 0.200 21 25891820 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 2010 2010