Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 4
rs764575966
SDHC
0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 4
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
rs796065343
CSF3R
0.776 0.080 1 36467833 missense variant G/A snv 2
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 1
rs121434264
LOC101929160 ; CDC73
0.851 0.080 1 193125171 missense variant T/C snv 1
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 1
rs138551214
EPHB2
0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05 1
rs28942098
LOC101929160 ; CDC73
1.000 0.160 1 193122203 start lost G/A;T snv 1
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 1
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs80358225
TACSTD2
1.000 0.120 1 58576648 stop gained G/T snv 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 5
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 4