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: rs7453920
rs7453920
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.720 1.000 5 2013 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2013
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.020 1.000 2 2013 2018
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 0.500 2 2017 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2013
dbSNP: rs1054690270
rs1054690270
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs11465817
rs11465817
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12354
rs12354
2 0.925 0.080 12 6390939 3 prime UTR variant T/A;G snv 1.6E-04; 0.76 0.010 1.000 1 2017 2017
dbSNP: rs12614
rs12614
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.700 1.000 1 2015 2015
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2132039
rs2132039
2 0.925 0.120 4 69293669 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs2293152
rs2293152
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2617160
rs2617160
1 1.000 0.080 12 10392998 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs3759333
rs3759333
3 0.882 0.120 12 6382781 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3775290
rs3775290
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs378352
rs378352
2 0.925 0.200 6 33007157 synonymous variant G/A;C snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs6715787
rs6715787
4 0.851 0.200 2 46349033 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs7712322
rs7712322
1 1.000 0.080 5 90482078 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7813
rs7813
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs78900671
rs78900671
1 1.000 0.080 8 138653967 intron variant G/A;C snv 0.700 1.000 1 2019 2019