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: rs669
rs669
7 0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33 0.010 1.000 1 2000 2000
dbSNP: rs72653772
rs72653772
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs9983925
rs9983925
4 21 45216929 intron variant C/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10509125
rs10509125
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs9804190
rs9804190
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2009 2009
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.020 1.000 2 2000 2010
dbSNP: rs74315457
rs74315457
6 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs35369693
rs35369693
2 1 206116696 missense variant C/G;T snv 4.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs945032
rs945032
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 18 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2015
dbSNP: rs80359636
rs80359636
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.040 1.000 4 2014 2018
dbSNP: rs1561515242
rs1561515242
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2015 2019
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.010 < 0.001 1 2018 2018