Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 25
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 21
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
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
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 13
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 12
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 9
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 5
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 5
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 5
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv 3
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv 3
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 3
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv 2
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs121913480
FGFR3
1.000 0.120 4 1806604 missense variant G/T snv 2