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: rs10230087
rs10230087
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1163276899
rs1163276899
2 1.000 0.040 3 53673125 missense variant G/A snv 0.010 1.000 1 2018 2018
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: rs12531289
rs12531289
2 1.000 0.040 7 114600061 intron variant T/A snv 0.73 0.010 1.000 1 2014 2014
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: rs1350135
rs1350135
2 1.000 0.040 7 114602621 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1801291
rs1801291
2 1.000 0.040 X 43744144 synonymous variant T/C snv 0.010 1.000 1 2014 2014
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: rs199473391
rs199473391
2 1.000 0.040 12 2607117 stop gained G/A;T snv 0.010 1.000 1 2019 2019
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: rs251684
rs251684
2 1.000 0.040 19 48098197 synonymous variant T/C snv 0.61 0.64 0.010 1.000 1 2016 2016
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: rs9616915
rs9616915
2 1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46 0.010 1.000 1 2014 2014
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: rs237902
rs237902
3 0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31 0.010 1.000 1 2018 2018
dbSNP: rs3027407
rs3027407
3 0.925 0.040 X 43745594 3 prime UTR variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs3747333
rs3747333
3 0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs3747334
rs3747334
3 0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03 0.010 1.000 1 2019 2019
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: 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: rs587777457
rs587777457
3 0.925 0.200 X 43731695 missense variant G/T snv 0.010 1.000 1 2014 2014
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
dbSNP: rs768913131
rs768913131
3 0.925 0.040 2 50552821 missense variant G/A snv 0.010 1.000 1 2004 2004
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: rs6551665
rs6551665
4 0.882 0.040 4 61873823 intron variant G/A snv 0.59 0.010 1.000 1 2019 2019