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: rs2285053
rs2285053
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.020 1.000 2 2007 2019
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10496040
rs10496040
1 1.000 0.120 2 55080510 5 prime UTR variant C/A snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs10898880
rs10898880
3 0.925 0.160 11 72814066 upstream gene variant C/A snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs11169571
rs11169571
4 0.851 0.200 12 50819982 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs117465650
rs117465650
1 1.000 0.120 2 55050090 missense variant C/T snv 0.12 6.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs17046583
rs17046583
1 1.000 0.120 2 55001811 intron variant A/G snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs2071346
rs2071346
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs2588519
rs2588519
1 1.000 0.120 2 54977988 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs2920891
rs2920891
1 1.000 0.120 2 55080901 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3216733
rs3216733
3 0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2019 2019
dbSNP: rs4645948
rs4645948
3 0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.060 0.667 6 2006 2018
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.050 0.800 5 2014 2018
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.050 0.600 5 2006 2018
dbSNP: rs29232
rs29232
4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.740 1.000 5 2009 2018
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.040 0.500 4 2011 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 1.000 4 2013 2018
dbSNP: rs9510787
rs9510787
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.730 1.000 4 2010 2018
dbSNP: rs2894207
rs2894207
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.720 1.000 3 2010 2018
dbSNP: rs9258122
rs9258122
1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.020 1.000 2 2009 2018
dbSNP: rs117565607
rs117565607
1 1.000 0.120 6 30204594 intron variant T/A snv 2.3E-03 0.010 1.000 1 2018 2018