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: rs10011025
rs10011025
1 1.000 0.120 4 174733072 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 0.500 2 2006 2018
dbSNP: rs1003878
rs1003878
3 0.882 0.200 6 32332045 stop gained G/A snv 0.19 0.23 0.700 1.000 1 2007 2007
dbSNP: rs1004446
rs1004446
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.810 1.000 3 2007 2017
dbSNP: rs1012411
rs1012411
1 1.000 0.120 6 30364778 upstream gene variant T/G snv 0.32 0.700 1.000 1 2007 2007
dbSNP: rs1015166
rs1015166
2 0.925 0.120 6 32830954 intron variant C/G;T snv 0.28 0.800 1.000 2 2007 2015
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2008 2008
dbSNP: rs10186193
rs10186193
1 1.000 0.120 2 3550384 synonymous variant T/C snv 0.33 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1020856343
rs1020856343
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1022059218
rs1022059218
2 0.925 0.200 2 203936863 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1023934247
rs1023934247
1 1.000 0.120 10 70598292 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs10255021
rs10255021
1 1.000 0.120 7 94402493 intron variant G/A snv 0.13 0.700 1.000 1 2007 2007
dbSNP: rs10272724
rs10272724
4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs10277986
rs10277986
1 1.000 0.120 7 50961290 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1041740
rs1041740
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.700 1.000 1 2007 2007
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2008 2008
dbSNP: rs10484566
rs10484566
2 0.925 0.200 6 32867481 regulatory region variant T/G snv 6.8E-02 0.700 1.000 1 2007 2007
dbSNP: rs1048990
rs1048990
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10492166
rs10492166
1 1.000 0.120 12 9733403 upstream gene variant G/A snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.020 1.000 2 2006 2008
dbSNP: rs10509540
rs10509540
2 0.925 0.160 10 88263276 upstream gene variant T/C snv 0.25 0.810 1.000 2 2009 2012
dbSNP: rs10517086
rs10517086
4 0.882 0.160 4 26083889 intron variant G/A snv 0.27 0.800 1.000 1 2009 2009
dbSNP: rs1052486
rs1052486
4 0.851 0.200 6 31642909 missense variant A/G snv 0.51 0.44 0.700 1.000 1 2007 2007