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: rs1642743
rs1642743
VHL
1 1.000 0.120 3 10148783 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1802074
rs1802074
2 0.925 0.120 7 37907501 missense variant C/T snv 0.20 0.24 0.010 1.000 1 2009 2009
dbSNP: rs2050462
rs2050462
2 0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2241261
rs2241261
2 0.925 0.120 8 23019226 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2243270
rs2243270
IL4
2 0.925 0.120 5 132678417 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2279776
rs2279776
1 1.000 0.120 9 8389364 synonymous variant C/G;T snv 0.50; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2291599
rs2291599
2 0.925 0.120 11 11968352 intron variant T/C snv 0.83 0.85 0.010 1.000 1 2009 2009
dbSNP: rs2499707
rs2499707
2 0.925 0.120 6 34085889 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2504106
rs2504106
2 0.925 0.120 6 39854343 intron variant A/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs2606736
rs2606736
4 1.000 0.120 3 11358775 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2761016
rs2761016
2 0.925 0.120 9 113391072 intron variant T/C snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs3118523
rs3118523
2 0.925 0.120 9 134443675 downstream gene variant G/A snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs333951
rs333951
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018
dbSNP: rs34048824
rs34048824
1 1.000 0.120 2 25312674 intron variant T/C snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs35073794
rs35073794
2 0.925 0.120 3 169764347 downstream gene variant G/A snv 1.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs3923594
rs3923594
2 1.000 0.120 11 119317205 intron variant C/A;T snv 7.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs4381241
rs4381241
2 0.925 0.120 1 50441766 intron variant T/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs4765623
rs4765623
2 0.925 0.120 12 124836304 intron variant C/T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs4787951
rs4787951
2 0.925 0.120 16 27332642 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs4903064
rs4903064
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs553863637
rs553863637
3 0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs611646
rs611646
ATM
3 0.882 0.120 11 108306370 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6466135
rs6466135
2 0.925 0.120 7 106861053 upstream gene variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs6540341
rs6540341
2 0.925 0.120 X 149714188 non coding transcript exon variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs6641352
rs6641352
2 0.925 0.120 X 149711150 intron variant A/G snv 0.010 1.000 1 2019 2019