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
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
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
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 23
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 18
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 17
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 17
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 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
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 11
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 11
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 8
rs8034191
HYKK
0.695 0.440 15 78513681 intron variant T/C snv 0.27 8
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 7