Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs56126236
PTCH2
0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 2
rs755103500
PTCH1
0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06 4
rs766905791
PTCH1
0.851 0.160 9 95485815 start lost T/C snv 1.2E-05 4
rs540045689
PTCH1
1.000 0.040 9 95508351 missense variant G/C snv 7.2E-06 1
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
rs3734254
PPARD
0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 14
rs6008197
PPARA
0.882 0.040 22 46224519 intron variant G/C snv 0.27 3
rs63750451
PMS2
0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 7
rs143277125
PMS2
0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 6
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
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 23
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 16
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 10
rs78380192
PAF1 ; MED29
1.000 0.040 19 39391457 missense variant C/T snv 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
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs765602971
NBN
0.882 0.040 8 89970503 missense variant T/C snv 4.0E-06 3
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5