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: rs1208636573
rs1208636573
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1569540688
rs1569540688
4 0.925 0.240 X 153725586 missense variant T/C snv 0.700 0
dbSNP: rs622288
rs622288
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs1287723181
rs1287723181
APP
2 1.000 0.080 21 25954680 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs142690225
rs142690225
3 0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs144169475
rs144169475
1 4 47905303 missense variant A/T snv 7.1E-03 3.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs1470272477
rs1470272477
2 1.000 0.080 12 64495561 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs200754713
rs200754713
2 1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs202218688
rs202218688
APP
2 1.000 0.080 21 26000131 missense variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs2230365
rs2230365
4 0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2239707
rs2239707
1 6 31557542 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3734354
rs3734354
2 1.000 0.080 6 100420903 missense variant G/A;T snv 1.6E-04; 0.18 0.010 1.000 1 2014 2014
dbSNP: rs533667466
rs533667466
APP
3 0.925 0.080 21 25911912 missense variant T/C snv 0.010 1.000 1 2008 2008
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 2019 2019
dbSNP: rs6259
rs6259
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs63749855
rs63749855
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63749891
rs63749891
5 0.851 0.080 14 73198094 missense variant G/C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63749961
rs63749961
3 0.925 0.080 14 73192772 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63750072
rs63750072
3 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs762046989
rs762046989
5 0.851 0.200 17 45971867 missense variant C/G snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7794745
rs7794745
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs9901675
rs9901675
5 17 7581494 missense variant G/A snv 5.4E-02 5.5E-02 0.010 1.000 1 2016 2016