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: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
dbSNP: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 0
dbSNP: rs137853294
rs137853294
RB1
6 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs1555515731
rs1555515731
CDH1
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 0
dbSNP: rs28897728
rs28897728
BRCA2
1 1.000 0.120 13 32338940 missense variant G/A snv 3.9E-04 4.3E-04 0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0
dbSNP: rs786201675
rs786201675
ATM
4 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 0
dbSNP: rs11466445
rs11466445
TGFBR1
5 0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 < 0.001 1 2009 2009
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2016 2016
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs921142
rs921142 		3 0.882 0.120 8 41311757 upstream gene variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.020 0.500 2 2013 2014
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 0.500 2 2011 2014
dbSNP: rs1800371
rs1800371
TP53
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.020 0.500 2 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2013
dbSNP: rs2228526
rs2228526
ERCC6
13 0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19 0.020 0.500 2 2007 2017