Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519951
RHOA
0.882 0.080 3 49375472 missense variant C/G;T snv 4
rs28933369
MIR4728 ; ERBB2
0.925 0.080 17 39724744 missense variant G/A snv 3
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 6
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G 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
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv 4
rs1057519900
FGFR2
0.882 0.120 10 121515259 missense variant C/T snv 3
rs121913471
MIR4728 ; ERBB2
0.807 0.120 17 39724747 missense variant G/A;C;T snv 3
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
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs876660807
TP53
0.763 0.160 17 7674248 missense variant T/C snv 12
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv 10
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv 8
rs786201419
TP53
0.790 0.160 17 7675180 missense variant C/A;T snv 8
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 7
rs749415085
PIK3CA
0.807 0.160 3 179198937 missense variant C/A;G;T snv 7
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6
rs772110575
PIK3CA
0.807 0.160 3 179198938 missense variant G/A;T snv 4.0E-06 6
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv 5