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: rs141441277
rs141441277
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs1275980031
rs1275980031
2 1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1804197
rs1804197
APC
2 1.000 0.040 5 112844212 3 prime UTR variant C/A snv 7.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs12531289
rs12531289
2 1.000 0.040 7 114600061 intron variant T/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1350135
rs1350135
2 1.000 0.040 7 114602621 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10230087
rs10230087
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs2061183
rs2061183
2 1.000 0.040 7 114617959 intron variant C/G snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1414334
rs1414334
5 0.851 0.160 X 114903581 intron variant C/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.030 1.000 3 2009 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs201551401
rs201551401
3 0.925 0.040 7 124746694 missense variant C/T snv 6.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs4541
rs4541
2 1.000 0.040 8 142875277 missense variant G/A;T snv 7.8E-02; 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs4534
rs4534
3 0.925 0.240 8 142879686 missense variant C/T snv 8.4E-02 4.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs4141463
rs4141463
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918799
rs121918799
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2009 2013
dbSNP: rs12037377
rs12037377
2 1.000 0.040 1 246551218 missense variant G/A snv 3.2E-03 1.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs199473391
rs199473391
2 1.000 0.040 12 2607117 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2009 2009
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs750257282
rs750257282
3 1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 0.010 1.000 1 2013 2013