Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519875
ACVR1
0.925 0.120 2 157770385 missense variant C/A snv 2
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv 2
rs863224846
ACVR1
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 3
rs1057519900
FGFR2
0.882 0.120 10 121515259 missense variant C/T snv 3
rs121913474
FGFR2
0.790 0.200 10 121515260 missense variant A/G snv 3
rs121913471
MIR4728 ; ERBB2
0.807 0.120 17 39724747 missense variant G/A;C;T snv 3
rs28933369
MIR4728 ; ERBB2
0.925 0.080 17 39724744 missense variant G/A snv 3
rs1057519954
RHOA
0.882 0.160 3 49375465 missense variant T/A;C;G snv 3
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv 4
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519916
MTOR
0.882 0.160 1 11109320 missense variant T/A snv 4
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs1057519951
RHOA
0.882 0.080 3 49375472 missense variant C/G;T snv 4
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv 5
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv 5
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 5
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv 5
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv 5
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv 5
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv 5
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5