Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv 1
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 1
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv 1
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 2
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv 2
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T 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
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv 1
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv 3
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1057520015
ROCK1
1.000 0.080 18 20955181 missense variant G/A snv 2
rs1057520037
EGFR
1.000 0.080 7 55174782 missense variant G/C snv 1
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25