Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 10
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs143277125
PMS2
0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 3
rs1477199832
SUFU
0.925 0.160 10 102597223 frameshift variant -/C delins 2
rs1554840869
ACTR1A ; SUFU
0.925 0.160 10 102504322 frameshift variant -/C delins 2
rs1554841447
SUFU
0.925 0.160 10 102509168 splice acceptor variant G/A snv 2
rs1554852279
SUFU
0.925 0.160 10 102592711 frameshift variant -/TA delins 2
rs1564032829
LOC100507346 ; PTCH1
0.925 0.160 9 95468757 frameshift variant T/- delins 2
rs1564654588
SUFU ; ACTR1A
0.925 0.160 10 102504327 stop gained A/T snv 2
rs1564676479
SUFU
0.925 0.160 10 102550107 splice donor variant G/A snv 2
rs1564698683
SUFU
0.925 0.160 10 102597207 stop gained G/A snv 2
rs1564698850
SUFU
0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 2
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs17847577
WRN
0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 2
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1