Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs17650301
POLG2 ; MILR1
0.925 0.120 17 64483156 intron variant A/C snv 0.23 1
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 11
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 17
rs11892031
UGT1A10 ; UGT1A8
0.882 0.120 2 233656637 intron variant A/C;T snv 4
rs11191454
LOC107984265 ; BORCS7-ASMT ; AS3MT
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 1
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 1
rs10094872
CASC11
0.882 0.200 8 127707639 intron variant A/T snv 0.33 3
rs760805
RUNX3 ; LOC107984932
0.776 0.240 1 24925432 intron variant A/T snv 0.42 2
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs4510656
CDKAL1
0.925 0.120 6 20766466 intron variant C/A snv 0.39 2
rs62185668 0.925 0.120 20 10981287 intron variant C/A snv 0.19 2
rs7003908
PRKDC
0.716 0.320 8 47858141 intron variant C/A snv 0.66 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 37
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 23
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 17
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 13