Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv 1
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 1
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 1
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 1
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 1
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 1
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 1
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 1
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 1
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 1
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 1
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 1
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 1
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 1
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 1
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 1
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv 1
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv 1
rs137854599
CDKN2A
0.882 0.080 9 21971093 missense variant C/G;T snv 1
rs1554653960
CDKN2A
0.925 0.040 9 21971007 missense variant C/T snv 1
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 1
rs36204594
CDKN2A
1.000 0.040 9 21971180 missense variant G/A;T snv 1
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs397514644
AKT1
0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06 1
rs80359204
BRCA2
1.000 0.040 13 32394741 missense variant A/G snv 1