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: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs7747909
rs7747909
IL17A
7 0.790 0.320 6 52189451 3 prime UTR variant G/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs3804513
rs3804513
IL17A
4 0.851 0.080 6 52188399 intron variant A/T snv 2.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs10484879
rs10484879
IL17A
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs10857561
rs10857561
MAPK8
1 1.000 0.080 10 48400595 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2007 2007
dbSNP: rs767285340
rs767285340
MSH6 ; FBXO11
1 1.000 0.080 2 47799861 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2619112
rs2619112
ALOX15
3 0.882 0.160 17 4632090 intron variant A/C;G snv 4.0E-06; 0.53 0.010 1.000 1 2013 2013
dbSNP: rs1970764
rs1970764
PPP1R13L
4 0.851 0.120 19 45387615 intron variant T/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs770507184
rs770507184
ERCC2
1 1.000 0.080 19 45370161 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2009 2009
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2009 2010
dbSNP: rs730881833
rs730881833
MUTYH
6 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2010 2010
dbSNP: rs35352891
rs35352891
MUTYH
5 0.827 0.200 1 45331729 missense variant G/A snv 3.8E-04 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2010 2011
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs4803455
rs4803455
TGFB1
11 0.752 0.280 19 41345604 intron variant C/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs2269349
rs2269349
RPSA ; SNORA62
2 0.925 0.080 3 39411566 non coding transcript exon variant C/T snv 0.49 0.010 1.000 1 2013 2013