Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913226
BRAF
1.000 0.040 7 140753332 inframe deletion TTT/- del 1
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs121913416
CTNNB1
1.000 0.040 3 41224575 inframe deletion TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- delins 1
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs876658511
CDKN2A
1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins 2
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs4911414 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 5
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29 4
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv 2
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv 2
rs10515789
EBF1
1.000 0.040 5 159079407 intron variant T/G snv 0.11 1
rs1057519706
KIT
1.000 0.040 4 54727474 missense variant T/G snv 1
rs1335510
LOC107987026
1.000 0.040 9 21757804 intergenic variant T/G snv 0.32 1
rs2237028
KIT
1.000 0.040 4 54670209 intron variant T/G snv 0.44 1
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 12
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 10
rs1035142
FLACC1
0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 7
rs10739221
LINC01505
0.851 0.080 9 106298549 intron variant T/C;G snv 5