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: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1394069156
rs1394069156
CHEK2
1 1.000 0.080 22 28703554 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.070 0.857 7 2004 2019
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs730881689
rs730881689
CHEK2
1 1.000 0.080 22 28696951 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs751409106
rs751409106
LIG4
1 1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2015 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2009 2011
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2015 2018
dbSNP: rs782237788
rs782237788
NCOA4
2 1.000 0.080 10 46009499 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs10877887
rs10877887
LINC01465 ; MIRLET7I
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1267636
rs1267636
BRAF
1 1.000 0.080 7 140792239 intron variant T/C snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs13293512
rs13293512 		11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs1377580273
rs1377580273
NBN
3 0.882 0.120 8 89947888 missense variant T/C snv 4.6E-06 0.010 1.000 1 2017 2017
dbSNP: rs140451238
rs140451238
ITK
2 1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs1467664274
rs1467664274
CHEK2
1 1.000 0.080 22 28695186 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1562430
rs1562430
POU5F1B ; CASC8 ; PCAT1 ; CASC21
6 0.807 0.160 8 127375606 intron variant T/C snv 0.41 0.010 < 0.001 1 2012 2012
dbSNP: rs2070946
rs2070946
ITGB2 ; ITGB2-AS1
1 1.000 0.080 21 44921282 non coding transcript exon variant T/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs2288496
rs2288496
TSHR ; LOC101928462
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs2352326
rs2352326 		1 1.000 0.080 X 91591642 intergenic variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs3758249
rs3758249
FOXE1 ; PTCSC2
3 0.882 0.200 9 97851858 intron variant T/C snv 0.63 0.010 1.000 1 2014 2014