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: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs4851527
rs4851527
7 0.790 0.160 2 102005914 intron variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs719250
rs719250
5 0.827 0.200 2 102007256 intron variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs3218896
rs3218896
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11568818
rs11568818
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs77381814
rs77381814
3 0.882 0.080 14 103699410 missense variant C/T snv 1.5E-03 5.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2008 2018
dbSNP: rs2255336
rs2255336
5 0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74 0.010 1.000 1 2012 2012
dbSNP: rs807181
rs807181
4 0.851 0.120 X 108090354 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs807183
rs807183
4 0.851 0.120 X 108094263 intron variant G/A snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs2232641
rs2232641
4 0.851 0.160 13 108209297 missense variant T/C snv 1.5E-03 5.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
dbSNP: rs3787016
rs3787016
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2014 2014
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1143630
rs1143630
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2015 2019
dbSNP: rs1110839
rs1110839
6 0.807 0.120 2 113236840 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4848320
rs4848320
6 0.807 0.120 2 113253214 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4570
rs4570
4 0.882 0.080 8 116846150 3 prime UTR variant G/A snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2289937
rs2289937
4 0.882 0.080 8 116861572 intron variant G/A;C snv 0.010 1.000 1 2018 2018