Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913480
FGFR3
1.000 0.120 4 1806604 missense variant G/T snv 2
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 23
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 5
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 9
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 21
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv 3
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
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
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 2
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
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 1
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 1
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 3
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 4
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 2
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 5
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 2