Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 1
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 1
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 3
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv 15
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 16
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 1
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
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 8
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1