Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 17
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 17
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 15
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 13
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 13
rs8034191
HYKK
0.695 0.440 15 78513681 intron variant T/C snv 0.27 8
rs1063192
CDKN2B ; CDKN2B-AS1
0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 6
rs1495741 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 6
rs11191454
LOC107984265 ; BORCS7-ASMT ; AS3MT
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs587776783
LOC112268118 ; RB1
0.851 0.200 13 48373493 splice donor variant G/A snv 5
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs11892031
UGT1A10 ; UGT1A8
0.882 0.120 2 233656637 intron variant A/C;T snv 4
rs1555515731
CDH1
0.882 0.160 16 68812189 frameshift variant T/- delins 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs2157719
CDKN2B-AS1
0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 4
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs907611
LSP1
0.882 0.160 11 1852842 upstream gene variant G/A snv 0.26 4
rs10094872
CASC11
0.882 0.200 8 127707639 intron variant A/T snv 0.33 3