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: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.020 1.000 2 2018 2019
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.020 1.000 2 2009 2016
dbSNP: rs1061285
rs1061285
SMO
2 0.925 0.120 7 129213467 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1217371203
rs1217371203
4 0.882 0.120 3 122106342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1633445
rs1633445
2 0.925 0.120 22 20113073 non coding transcript exon variant T/A;C snv 1.2E-05; 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2868371
rs2868371
6 0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3757
rs3757
5 0.851 0.160 22 20111808 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs587782477
rs587782477
APC
4 0.882 0.120 5 112775679 missense variant A/T snv 0.010 1.000 1 2001 2001
dbSNP: rs720014
rs720014
1 1.000 0.080 22 20111359 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2016 2016