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: 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: 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: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 2020
dbSNP: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2007
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: 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: rs755135182
rs755135182
2 2 177231657 missense variant G/A snv 4.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs1205185774
rs1205185774
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1235134025
rs1235134025
1 5 96740769 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1300858963
rs1300858963
OGA
1 10 101799033 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1314736087
rs1314736087
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1348073540
rs1348073540
1 10 48431259 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1411928276
rs1411928276
DCT
1 13 94479251 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1424794503
rs1424794503
1 15 88899478 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs281860580
rs281860580
1 6 31270083 missense variant G/A;T snv 0.010 1.000 1 2014 2014
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: rs63750129
rs63750129
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs63750349
rs63750349
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
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: rs760073870
rs760073870
1 1 223752954 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2002 2002