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: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 1997 1997
dbSNP: rs1211164799
rs1211164799
3 0.882 0.080 17 49973938 missense variant A/T snv 0.010 1.000 1 1998 1998
dbSNP: rs201216664
rs201216664
5 0.851 0.080 17 51171503 missense variant A/G snv 0.030 1.000 3 1995 1999
dbSNP: rs63750646
rs63750646
6 0.807 0.120 14 73217147 missense variant G/C snv 0.010 1.000 1 1999 1999
dbSNP: rs74315407
rs74315407
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs74315406
rs74315406
5 0.851 0.160 20 4699870 missense variant A/G snv 0.020 1.000 2 1997 2000
dbSNP: rs63749805
rs63749805
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.030 1.000 3 1998 2001
dbSNP: rs369576054
rs369576054
6 0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05 0.020 1.000 2 1999 2001
dbSNP: rs538874513
rs538874513
6 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 0.020 1.000 2 1999 2001
dbSNP: rs63751163
rs63751163
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 2000 2001
dbSNP: rs1273925499
rs1273925499
3 0.882 0.080 17 45991557 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs377522479
rs377522479
4 0.882 0.080 4 85931021 missense variant C/T snv 2.0E-05 3.5E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs63751235
rs63751235
6 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2001 2001
dbSNP: rs749098599
rs749098599
4 0.882 0.080 1 3683085 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2001 2001
dbSNP: rs771723690
rs771723690
3 0.882 0.080 4 85570622 synonymous variant G/A snv 1.6E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs786203436
rs786203436
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs41274458
rs41274458
4 0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs138085133
rs138085133
3 0.882 0.080 1 26022729 missense variant C/G;T snv 8.4E-04; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1438565133
rs1438565133
5 0.827 0.120 5 36674078 missense variant C/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs28938172
rs28938172
7 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs587781960
rs587781960
4 0.882 0.080 22 28689164 missense variant A/C;G;T snv 1.3E-05; 7.3E-05 0.010 1.000 1 2005 2005
dbSNP: rs74315351
rs74315351
6 0.807 0.080 1 7962863 missense variant G/A snv 0.010 1.000 1 2005 2005