Source: CLINVAR ×
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
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
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 16
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 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 36
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 22
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 11
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 6
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1