Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28942088
SUFU ; ACTR1A
1.000 0.040 10 102504196 missense variant C/T snv 1
rs863224925
ACTR1A ; SUFU
1.000 0.040 10 102504263 frameshift variant C/- del 1
rs1554840869
ACTR1A ; SUFU
0.925 0.160 10 102504322 frameshift variant -/C delins 2
rs1564654588
SUFU ; ACTR1A
0.925 0.160 10 102504327 stop gained A/T snv 2
rs1554841447
SUFU
0.925 0.160 10 102509168 splice acceptor variant G/A snv 2
rs1060501108
SUFU
0.925 0.160 10 102549993 frameshift variant G/- del 2
rs1060501109
SUFU
0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 2
rs1564676479
SUFU
0.925 0.160 10 102550107 splice donor variant G/A snv 2
rs1554852279
SUFU
0.925 0.160 10 102592711 frameshift variant -/TA delins 2
rs1564698683
SUFU
0.925 0.160 10 102597207 stop gained G/A snv 2
rs1477199832
SUFU
0.925 0.160 10 102597223 frameshift variant -/C delins 2
rs1564698850
SUFU
0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 2
rs587776578
SUFU
0.882 0.160 10 102599545 splice donor variant G/A;C snv 3
rs1060501105
SUFU
0.925 0.160 10 102615266 splice acceptor variant A/T snv 2
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs387906238
APC
0.925 0.120 5 112819224 frameshift variant AA/- del 2
rs1291513037
APC
1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06 1
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 17
rs1057517558
APC
0.882 0.120 5 112839549 frameshift variant C/- delins 3
rs878853445
APC
1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06 1
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs13306747
PPARG
0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 6
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22