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
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
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
rs1057519831
PLCG2
1.000 0.120 16 81912655 missense variant C/T snv 1
rs1057519832
PLCG2
1.000 0.120 16 81928578 missense variant A/C;G;T snv 1
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs755415626
SF3B1
0.925 0.200 2 197401887 missense variant C/T snv 7.0E-06 2
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 3
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
rs1057519959
SF3B2
0.882 0.200 11 66063028 missense variant A/C snv 4
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 5
rs1057520010
XPO1
0.882 0.200 2 61492336 missense variant T/A;G snv 5
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7