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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.684 19 2005 2020
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.050 1.000 5 2010 2020
dbSNP: rs7914558
rs7914558
5 0.851 0.040 10 103016151 intron variant G/A snv 0.40 0.830 1.000 5 2011 2020
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.040 1.000 4 2010 2020
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.030 1.000 3 2009 2020
dbSNP: rs3755557
rs3755557
6 0.807 0.280 3 120096110 non coding transcript exon variant T/A snv 0.14 0.030 1.000 3 2011 2020
dbSNP: rs3787283
rs3787283
3 0.882 0.040 20 10303770 intron variant A/G snv 0.34 0.030 1.000 3 2009 2020
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.020 1.000 2 2008 2020
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 0.500 2 2010 2020
dbSNP: rs2975226
rs2975226
2 0.925 0.040 5 1445501 upstream gene variant A/T snv 0.50 0.020 1.000 2 2010 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: rs284854
rs284854
1 1.000 0.040 10 102814805 3 prime UTR variant T/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs3756450
rs3756450
1 1.000 0.040 5 1448033 upstream gene variant A/G snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs4147157
rs4147157
1 1.000 0.040 10 102776603 intron variant G/A snv 8.9E-02 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: rs464049
rs464049
1 1.000 0.040 5 1423790 intron variant A/G snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs5177
rs5177
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs539689
rs539689
2 0.925 0.080 6 31829810 synonymous variant C/G snv 0.57 0.52 0.010 1.000 1 2020 2020
dbSNP: rs6039769
rs6039769
1 1.000 0.040 20 10218306 intron variant A/C;G snv 0.010 1.000 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: rs871925
rs871925
1 1.000 0.040 7 2008240 intron variant G/A snv 0.56 0.010 1.000 1 2020 2020
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.854 123 1997 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.869 84 2003 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.872 78 2003 2019