Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 2 2009 2012
dbSNP: rs1291513037
rs1291513037
APC
1 1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1333957805
rs1333957805
CXCR4
1 1.000 0.040 2 136115639 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs139209450
rs139209450
AXIN2
1 1.000 0.040 17 65535650 missense variant G/A snv 1.0E-03 3.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs1400239417
rs1400239417
ALK
4 0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs540045689
rs540045689
PTCH1
1 1.000 0.040 9 95508351 missense variant G/C snv 7.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs6008197
rs6008197
PPARA
3 0.882 0.040 22 46224519 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs749846538
rs749846538
AXIN2
1 1.000 0.040 17 65537814 missense variant C/T snv 6.7E-05 4.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs765602971
rs765602971
NBN
3 0.882 0.040 8 89970503 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs78380192
rs78380192
PAF1 ; MED29
1 1.000 0.040 19 39391457 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs878853445
rs878853445
APC
1 1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
5 0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs28942088
rs28942088
ACTR1A ; SUFU
1 1.000 0.040 10 102504196 missense variant C/T snv 0.700 0
dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
1 1.000 0.040 10 102504263 frameshift variant C/- del 0.700 0
dbSNP: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1057519898
rs1057519898
FGFR1
5 0.851 0.120 8 38417333 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
5 0.851 0.120 8 38417879 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs387906238
rs387906238
APC
2 0.925 0.120 5 112819224 frameshift variant AA/- del 0.010 1.000 1 2007 2007
dbSNP: rs17847577
rs17847577
WRN
2 0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 0.700 0
dbSNP: rs587776578
rs587776578
SUFU
3 0.882 0.160 10 102599545 splice donor variant G/A;C snv 0.700 1.000 3 2011 2014
dbSNP: rs1554841447
rs1554841447
SUFU
2 0.925 0.160 10 102509168 splice acceptor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479
SUFU
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1057519919
rs1057519919
MYCN ; MYCNOS
5 0.851 0.160 2 15942195 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs143277125
rs143277125
PMS2
6 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1554852279
rs1554852279
SUFU
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012