Source: ALL
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: rs71305152
rs71305152
ZFPM2
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs9288516
rs9288516
XRCC5
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs1476157710
rs1476157710
WNT10B
3 0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs371409680
rs371409680
TP53
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs866419664
rs866419664
TP53
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2002 2002
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs766727892
rs766727892
TCF7L2
3 0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs867657798
rs867657798
TCF4
3 0.925 0.040 18 55631366 missense variant G/A;C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs868162712
rs868162712
TCF4
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs12594
rs12594
RYR2
2 0.925 0.040 1 237833787 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs16835904
rs16835904
RYR2
2 0.925 0.040 1 237833954 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.020 1.000 2 2013 2015
dbSNP: rs4809324
rs4809324
RTEL1 ; RTEL1-TNFRSF6B
7 0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs6089953
rs6089953
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.080 20 63659655 intron variant A/G snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs3745601
rs3745601
P2RY11 ; PPAN-P2RY11
3 0.882 0.120 19 10113872 missense variant G/A snv 0.16 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2431689
rs2431689
MIR3142HG
3 0.882 0.040 5 160472115 intron variant G/A snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs7115578
rs7115578
MAML2
3 0.882 0.040 11 96266936 intron variant G/A snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2016 2016
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 0.500 2 2015 2018