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: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.020 1.000 2 2013 2014
dbSNP: rs28936380
rs28936380
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.020 1.000 2 2003 2005
dbSNP: rs1043202
rs1043202
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs112451138
rs112451138
2 0.925 0.080 14 73192667 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 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: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs1884049
rs1884049
2 0.925 0.080 6 151966232 intron variant T/C snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2281983
rs2281983
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs2306604
rs2306604
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2337506
rs2337506
2 0.925 0.080 15 32053864 intron variant A/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2420616
rs2420616
3 0.882 0.080 10 119316984 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs2618516
rs2618516
3 0.882 0.080 11 14000092 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs3087258
rs3087258
2 0.925 0.080 2 112837294 upstream gene variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs373885474
rs373885474
GRN
2 0.925 0.080 17 44352061 missense variant C/A;T snv 7.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs4752293
rs4752293
3 0.882 0.080 10 119342186 intron variant C/T snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs533667466
rs533667466
APP
3 0.925 0.080 21 25911912 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs6332
rs6332
4 0.851 0.080 12 5494466 synonymous variant G/A;T snv 0.49; 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.010 1.000 1 2012 2012
dbSNP: rs63749835
rs63749835
5 0.851 0.080 14 73192799 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs63750004
rs63750004
4 0.851 0.080 14 73173655 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs63750151
rs63750151
APP
3 0.882 0.080 21 25891761 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs63750324
rs63750324
2 0.925 0.080 14 73198111 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750444
rs63750444
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2002 2002