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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs10012
rs10012
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1005464
rs1005464
5 0.882 0.040 20 6775501 intron variant G/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs10074991
rs10074991
7 0.851 0.120 5 40790449 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs10109984
rs10109984
4 0.925 0.080 8 47891114 intron variant T/C snv 0.54 0.010 < 0.001 1 2013 2013
dbSNP: rs1012049
rs1012049
2 6 128209162 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs10131
rs10131
3 1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs10132552
rs10132552
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1015213
rs1015213
6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10175368
rs10175368
4 0.925 0.080 2 38080719 intron variant C/T snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs1018379423
rs1018379423
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs10203853
rs10203853
5 1.000 0.080 2 233778772 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs10248565
rs10248565
3 1.000 0.040 7 18935100 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs10272859
rs10272859
4 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs1027720509
rs1027720509
2 17 18340813 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1029342144
rs1029342144
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1034528
rs1034528
5 0.882 0.120 1 11189075 intron variant G/C snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1042667
rs1042667
3 1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1044129
rs1044129
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2017 2017