Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 2
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 45
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
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
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
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
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 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
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
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
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3