Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
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
rs104894231
LRRC56 ; HRAS
0.776 0.360 11 533467 missense variant C/G;T snv 7
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs1057519709
KIT
0.925 0.080 4 54733154 missense variant GA/AT mnv 1
rs1057519726
FLT3
1.000 0.040 13 28018502 missense variant T/A;C;G snv 1
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 1
rs1057519744
NPM1
1.000 0.040 5 171410542 frameshift variant -/CATG;CCTG;TCAG;TCTG ins 1
rs1057519745
WT1
1.000 0.040 11 32396363 frameshift variant -/ACCGTACA ins 1
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs1057519748
RUNX1
0.827 0.120 21 34859486 stop gained G/A snv 2
rs1057519749
RUNX1 ; LOC112267915
1.000 0.040 21 34880579 missense variant C/A;G snv 1
rs1057519750
LOC112267915 ; RUNX1
1.000 0.040 21 34880580 missense variant C/T snv 1
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv 4
rs1057519755
SF3B1
1.000 0.040 2 197402108 missense variant T/A;G snv 1
rs1057519756
SF3B1
1.000 0.040 2 197402109 missense variant T/A;C;G snv 1
rs1057519762
FLT3
1.000 0.040 13 28018484 missense variant A/G snv 1
rs1057519763
FLT3
1.000 0.040 13 28018504 missense variant TC/AA mnv 1
rs1057519764
FLT3
1.000 0.040 13 28027222 missense variant A/C;T snv 1
rs1057519765
FLT3
1.000 0.040 13 28027236 missense variant T/A;C snv 4.0E-06 1
rs1057519766
FLT3
0.851 0.080 13 28028203 missense variant G/C;T snv 1
rs1057519767
FLT3
1.000 0.040 13 28028205 missense variant T/C snv 1