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: 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: 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: 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: 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: 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: 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: 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: rs1554852279
rs1554852279
SUFU
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012
dbSNP: rs387906238
rs387906238
APC
2 0.925 0.120 5 112819224 frameshift variant AA/- del 0.010 1.000 1 2007 2007
dbSNP: rs1060501105
rs1060501105
SUFU
2 0.925 0.160 10 102615266 splice acceptor variant A/T snv 0.700 0
dbSNP: rs1060501108
rs1060501108
SUFU
2 0.925 0.160 10 102549993 frameshift variant G/- del 0.700 0
dbSNP: rs1060501109
rs1060501109
SUFU
2 0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1477199832
rs1477199832
SUFU
2 0.925 0.160 10 102597223 frameshift variant -/C delins 0.700 0
dbSNP: rs1554840869
rs1554840869
ACTR1A ; SUFU
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564032829
rs1564032829
PTCH1 ; LOC100507346
2 0.925 0.160 9 95468757 frameshift variant T/- delins 0.700 0
dbSNP: rs1564654588
rs1564654588
ACTR1A ; SUFU
2 0.925 0.160 10 102504327 stop gained A/T snv 0.700 0
dbSNP: rs1564698683
rs1564698683
SUFU
2 0.925 0.160 10 102597207 stop gained G/A snv 0.700 0
dbSNP: rs1564698850
rs1564698850
SUFU
2 0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 0.700 0
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: rs56126236
rs56126236
PTCH2
2 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 0