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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs352144
rs352144
TLR9
3 0.925 0.080 3 52227452 intron variant T/G snv 3.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs7656411
rs7656411
TLR2
8 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs12778366
rs12778366
SIRT1
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3219145
rs3219145
PARP1
4 0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs587782513
rs587782513
PMS2
2 0.925 0.080 7 5992023 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs680
rs680
IGF2 ; INS-IGF2
2 0.925 0.080 11 2132404 3 prime UTR variant T/C;G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2555639
rs2555639 		7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2012 2018
dbSNP: rs4464148
rs4464148
SMAD7
7 0.827 0.120 18 48932662 intron variant T/C snv 0.25 0.020 1.000 2 2009 2010
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs1450640054
rs1450640054
IGFBP3
2 0.925 0.080 7 45921122 missense variant T/C snv 1.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs17109924
rs17109924
LGR5
2 0.925 0.080 12 71584007 missense variant T/C snv 7.4E-02 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1724120
rs1724120
DUSP2 ; ASTL
2 0.925 0.080 2 96143592 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2099902
rs2099902
MBL2
2 0.925 0.080 10 52766089 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2270916
rs2270916
CASR
6 0.851 0.120 3 122282252 intron variant T/C snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2304204
rs2304204
IRF3 ; BCL2L12
3 0.882 0.160 19 49665763 5 prime UTR variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs2470144
rs2470144
CYP19A1
2 0.925 0.080 15 51329528 intron variant T/C snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 < 0.001 1 2009 2009