Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 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
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 2
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 2
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 1
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 1
rs1057520030
MET
7 116777427 missense variant A/G;T snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs121434265
LOC101929160 ; CDC73
0.925 0.080 1 193125142 stop gained C/G snv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 1
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 1
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 1
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 1
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 5
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1