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: rs763569821
rs763569821
MUC1
4 0.851 0.160 1 155188197 missense variant T/C snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2006 2006
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: 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: 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: rs1126579
rs1126579
CXCR2
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2008 2008
dbSNP: rs1126580
rs1126580
CXCR2
3 0.882 0.120 2 218136243 3 prime UTR variant G/A;T snv 0.010 1.000 1 2008 2008
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: 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: 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: 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
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2011 2011
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: 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: rs8004738
rs8004738
SERPINA1
2 0.925 0.080 14 94390577 5 prime UTR variant G/A snv 0.55 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: 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: 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: 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 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
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: rs3197999
rs3197999
APEH ; MST1
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.010 1.000 1 2013 2013
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: 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: 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