Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs922324159
MYCNOS ; MYCN
0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 5
rs1400239417
ALK
0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 4
rs6008197
PPARA
0.882 0.040 22 46224519 intron variant G/C snv 0.27 3
rs765602971
NBN
0.882 0.040 8 89970503 missense variant T/C snv 4.0E-06 3
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs1291513037
APC
1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06 1
rs1333957805
CXCR4
1.000 0.040 2 136115639 missense variant C/T snv 1
rs139209450
AXIN2
1.000 0.040 17 65535650 missense variant G/A snv 1.0E-03 3.0E-04 1
rs28942088
SUFU ; ACTR1A
1.000 0.040 10 102504196 missense variant C/T snv 1
rs540045689
PTCH1
1.000 0.040 9 95508351 missense variant G/C snv 7.2E-06 1
rs749846538
AXIN2
1.000 0.040 17 65537814 missense variant C/T snv 6.7E-05 4.2E-05 1
rs78380192
PAF1 ; MED29
1.000 0.040 19 39391457 missense variant C/T snv 1
rs863224925
ACTR1A ; SUFU
1.000 0.040 10 102504263 frameshift variant C/- del 1
rs878853445
APC
1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06 1
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv 5
rs1057517558
APC
0.882 0.120 5 112839549 frameshift variant C/- delins 3
rs17847577
WRN
0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 2
rs387906238
APC
0.925 0.120 5 112819224 frameshift variant AA/- del 2
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
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
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
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