Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;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
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 2
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12