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
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 11
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 3
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 2
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 9
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 5
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
rs1057520030
MET
7 116777427 missense variant A/G;T snv 1
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 1
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 5
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 23
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 21
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 14
rs730882025
TP53
0.724 0.360 17 7674885 missense variant C/A;G;T snv 14
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 7
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 5
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 1