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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 0
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: 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: rs62185668
rs62185668 		3 0.925 0.120 20 10981287 intron variant C/A snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs10094872
rs10094872
CASC11
4 0.882 0.200 8 127707639 intron variant A/T snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs2204008
rs2204008 		1 1.000 0.120 12 38045401 intergenic variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4510656
rs4510656
CDKAL1
2 0.925 0.120 6 20766466 intron variant C/A snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs4813953
rs4813953
LINC02871
1 1.000 0.120 20 11010490 intron variant T/C snv 0.63 0.700 1.000 1 2014 2014
dbSNP: rs5003154
rs5003154
PAG1
2 0.925 0.120 8 81074718 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs6104690
rs6104690
LINC02871
2 0.925 0.120 20 11007451 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7238033
rs7238033
SLC14A1 ; LOC105372093
2 0.925 0.120 18 45737001 intron variant T/C snv 0.61 0.700 1.000 1 2011 2011
dbSNP: rs7747724
rs7747724
CDKAL1
2 0.925 0.120 6 20751084 intron variant T/C snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs907611
rs907611
LSP1
4 0.882 0.160 11 1852842 upstream gene variant G/A snv 0.26 0.700 1.000 1 2014 2014