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: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.020 1.000 2 2010 2019
dbSNP: rs1436904
rs1436904
CHST9 ; AQP4-AS1
4 0.851 0.080 18 26990703 intron variant T/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs12662670
rs12662670
CCDC170
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs772885662
rs772885662
BRCA1
2 0.925 0.080 17 43063911 synonymous variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1651654
rs1651654
C16orf87
2 0.925 0.080 16 46822677 intron variant T/C snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs2278256
rs2278256
BABAM1 ; USHBP1
2 0.925 0.080 19 17267350 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs373587423
rs373587423
ERCC4
4 0.851 0.080 16 13935425 missense variant T/C snv 3.6E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs4849887
rs4849887 		7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs587779287
rs587779287
MSH6 ; FBXO11
5 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.010 1.000 1 2014 2014
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs121913016
rs121913016
ERCC2
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs4987188
rs4987188
MSH2
11 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 0.020 1.000 2 2015 2020
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs765433422
rs765433422
PTEN
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs13000023
rs13000023
LOC101928278 ; LOC105373873
4 0.851 0.080 2 217059671 downstream gene variant G/A;C;T snv 0.19 0.010 1.000 1 2019 2019