Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 19
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 18
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 13
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 13
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 9
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36 9
rs758175953
FLCN
0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 6
rs879255678
FLCN ; MPRIP
0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 6
rs137853236
HNF1A
0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 6
rs1555212014
HNF1A
0.807 0.280 12 120994264 missense variant C/T snv 6
rs754729248
HNF1A
0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 6
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 5
rs587776825
HNF1A
0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 5
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 5
rs718314
LOC105369705
0.882 0.120 12 26300350 intron variant A/G snv 0.27 4
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs397516440
VHL
0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 4