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: rs1799836
rs1799836
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 1.000 1 2020 2020
dbSNP: rs2066713
rs2066713
9 0.807 0.200 17 30224647 intron variant G/A snv 0.34 0.010 < 0.001 1 2020 2020
dbSNP: rs2234246
rs2234246
5 0.827 0.240 6 41276002 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs4251417
rs4251417
7 0.827 0.200 17 30224840 intron variant C/T snv 6.8E-02 0.010 < 0.001 1 2020 2020
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs7224199
rs7224199
7 0.827 0.160 17 30196708 3 prime UTR variant G/T snv 0.49 0.010 < 0.001 1 2020 2020
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 < 0.001 1 2019 2019
dbSNP: rs10051644
rs10051644
1 1.000 0.080 5 150227185 intron variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs1008805
rs1008805
7 0.851 0.160 15 51257402 intron variant G/A snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs10098778
rs10098778
1 1.000 0.080 8 94979792 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10139154
rs10139154
2 0.925 0.120 14 30678292 intron variant C/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs10164112
rs10164112
1 1.000 0.080 18 54355010 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10399931
rs10399931
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1041833271
rs1041833271
APP
2 0.925 0.080 21 25975995 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs10421247
rs10421247
1 1.000 0.080 19 45154228 intron variant C/T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs10426401
rs10426401
2 1.000 0.080 19 44644419 intron variant T/G snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs10501320
rs10501320
5 0.925 0.120 11 47272248 5 prime UTR variant G/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs10515639
rs10515639
1 1.000 0.080 5 150276863 intron variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10792421
rs10792421
2 0.925 0.080 11 63837705 upstream gene variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10808026
rs10808026
2 1.000 0.080 7 143402040 intron variant C/A snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11083743
rs11083743
1 1.000 0.080 19 44621921 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs111278892
rs111278892
1 1.000 0.080 19 1039324 upstream gene variant C/G;T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs111740474
rs111740474
1 1.000 0.080 19 44720227 intron variant G/A snv 9.6E-03 0.700 1.000 1 2019 2019