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: rs11770117
rs11770117
2 1.000 0.120 7 50406065 downstream gene variant A/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs12719019
rs12719019
2 1.000 0.120 7 50408441 downstream gene variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs12887958
rs12887958
1 1.000 0.120 14 23113360 downstream gene variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs4982731
rs4982731
1 1.000 0.120 14 23116124 downstream gene variant C/T snv 0.68 0.800 1.000 1 2013 2013
dbSNP: rs6944602
rs6944602
2 0.925 0.120 7 50406053 downstream gene variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs6964969
rs6964969
4 0.851 0.120 7 50405553 downstream gene variant A/G snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs8015478
rs8015478
2 1.000 0.120 14 23116809 downstream gene variant A/C snv 0.68 0.700 1.000 1 2013 2013
dbSNP: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.800 1.000 3 2009 2018
dbSNP: rs12748152
rs12748152
8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs17079534
rs17079534
1 1.000 0.120 3 39805581 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs1945213
rs1945213
1 1.000 0.120 11 56408195 upstream gene variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs4982729
rs4982729
1 1.000 0.120 14 23107402 upstream gene variant T/C snv 0.66 0.700 1.000 1 2013 2013
dbSNP: rs637868
rs637868
3 1.000 0.120 1 119714487 splice region variant T/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs4132601
rs4132601
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.820 1.000 4 2009 2019
dbSNP: rs10949482
rs10949482
1 1.000 0.120 6 18121083 3 prime UTR variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs149940960
rs149940960
3 1.000 0.120 2 11641492 3 prime UTR variant T/C snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs41307935
rs41307935
3 1.000 0.120 1 26854576 3 prime UTR variant C/T snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2003 2012
dbSNP: rs12669559
rs12669559
3 1.000 0.120 7 50368079 synonymous variant T/G snv 0.35 0.32 0.700 1.000 1 2013 2013
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs738408
rs738408
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2017 2017
dbSNP: rs408626
rs408626
2 0.925 0.120 5 80655314 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs4947709
rs4947709
1 1.000 0.120 7 50605210 non coding transcript exon variant T/C snv 0.63 0.700 1.000 1 2013 2013