Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs1057518978
ADNP
1.000 0.160 20 50892395 frameshift variant -/T delins 3
rs1057518992
NFIA
1.000 0.200 1 61359232 frameshift variant G/- delins 2
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs1064793829
GATAD2B
0.882 0.160 1 153816571 frameshift variant A/- delins 5
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv 6
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv 4
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv 5
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv 8
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv 6
rs1085308048
PTEN
0.851 0.320 10 87933175 stop gained T/G snv 4
rs1085308049
PTEN
0.925 0.080 10 87957885 stop gained A/T snv 3