Source: BEFREE ×
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: rs63751207
rs63751207
2 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs2072590
rs2072590
3 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 2 2010 2017
dbSNP: rs3814113
rs3814113
3 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.820 1.000 2 2009 2013
dbSNP: rs4320932
rs4320932
3 0.882 0.120 11 2150371 intron variant T/C snv 0.19 0.020 1.000 2 2011 2013
dbSNP: rs10088218
rs10088218
3 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.710 1.000 1 2010 2013
dbSNP: rs10098821
rs10098821
3 0.882 0.120 8 128546982 intron variant C/T snv 7.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1136905
rs1136905
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs13063604
rs13063604
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs147961867
rs147961867
3 0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1516982
rs1516982
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1805129
rs1805129
3 0.882 0.120 22 28734470 synonymous variant T/C snv 3.6E-02 4.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs186724
rs186724
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2191249
rs2191249
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2228026
rs2228026
3 0.882 0.120 14 20395890 synonymous variant A/G snv 4.7E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2287497
rs2287497
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs266851
rs266851
3 0.882 0.120 19 50833083 intron variant C/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs34529039
rs34529039
3 0.882 0.120 19 33301725 synonymous variant C/A snv 0.19 0.16 0.010 1.000 1 2016 2016
dbSNP: rs35068177
rs35068177
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014
dbSNP: rs3976507
rs3976507
3 0.882 0.120 3 179239995 3 prime UTR variant C/T snv 0.19 0.24 0.010 1.000 1 2019 2019
dbSNP: rs4648551
rs4648551
3 0.882 0.120 1 3716166 intron variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs4954956
rs4954956
3 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs4988344
rs4988344
3 0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15 0.010 1.000 1 2007 2007
dbSNP: rs55854959
rs55854959
3 0.882 0.120 13 32330979 missense variant G/A snv 2.4E-05 1.4E-04 0.010 1.000 1 2010 2010