Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519969
LOC107984999 ; SPOP
0.925 0.120 17 49619069 missense variant C/G snv 2
rs1057519963
SOS1
0.925 0.080 2 39054637 missense variant T/A snv 2
rs1057519968
SPOP ; LOC107984999
0.925 0.120 17 49619070 missense variant A/C;T snv 2
rs1057519970
SPOP ; LOC107984999
0.925 0.120 17 49619068 missense variant C/A snv 2
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
rs786205228
PPP2R1A
0.827 0.080 19 52212718 missense variant C/G;T snv 3
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
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv 4
rs1057519948
RAC1
0.851 0.120 7 6387262 missense variant C/T snv 4
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv 4
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv 4
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A 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
rs1057519854
FGFR2
0.882 0.080 10 121488063 missense variant A/T snv 5
rs1057519901
FGFR2
0.925 0.080 10 121498525 missense variant T/G snv 5
rs121913476
FGFR2
0.851 0.080 10 121498520 missense variant A/C;T snv 5
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv 5
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv 5
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5