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: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.100 0.952 21 2001 2020
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.100 1.000 13 2009 2019
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 2020
dbSNP: rs1005752506
rs1005752506
1 7 38461398 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1189501362
rs1189501362
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1235948930
rs1235948930
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1411928276
rs1411928276
DCT
1 13 94479251 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs281860580
rs281860580
1 6 31270083 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs63750376
rs63750376
7 0.827 0.120 17 45996657 missense variant G/T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs63750416
rs63750416
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs63750570
rs63750570
8 0.827 0.120 17 46018629 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs63750635
rs63750635
5 0.851 0.120 17 46014286 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs763872192
rs763872192
4 0.882 0.080 7 80672000 missense variant C/T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs775645890
rs775645890
1 7 76515192 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs866604606
rs866604606
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.060 1.000 6 2011 2019
dbSNP: rs398122403
rs398122403
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs63750512
rs63750512
6 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 1999 2000
dbSNP: rs201792381
rs201792381
APP
2 1.000 0.080 21 25997384 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2018 2018
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.070 1.000 7 2002 2018
dbSNP: rs780325052
rs780325052
1 5 96746417 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2019 2019