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: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3219476
rs3219476
MUTYH
3 0.882 0.200 1 45336998 intron variant A/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs761937143
rs761937143
SMAD4
1 1.000 0.040 18 51047229 synonymous variant A/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
2 0.925 0.040 2 136115158 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2076310
rs2076310
RXRB
2 0.925 0.080 6 33198257 intron variant A/G snv 0.27 0.28 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1003723
rs1003723
LDLR ; MIR6886
2 0.925 0.080 19 11113505 non coding transcript exon variant C/A;T snv 4.0E-06; 0.40 0.010 1.000 1 2008 2008
dbSNP: rs2289278
rs2289278
TSLP
5 0.827 0.200 5 111073450 5 prime UTR variant C/G snv 8.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2012 2012
dbSNP: rs2106261
rs2106261
ZFHX3
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs3024270
rs3024270
MRPL23 ; H19 ; HOTS
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2009 2009
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2013 2016
dbSNP: rs2230054
rs2230054
CXCR2
2 0.925 0.080 2 218135587 synonymous variant C/T snv 0.48 0.54 0.010 1.000 1 2008 2008
dbSNP: rs3219472
rs3219472
MUTYH ; TOE1
3 0.882 0.160 1 45338378 5 prime UTR variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs4986938
rs4986938
ESR2
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.010 1.000 1 2010 2010