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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2005 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2014 2014
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: 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: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
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: rs2072749
rs2072749
SELENON
1 1.000 0.080 1 25804530 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs956304
rs956304
SLC6A4 ; LOC105371720
1 1.000 0.080 17 30236544 upstream gene variant T/C snv 9.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs9637365
rs9637365
TXNRD3
1 1.000 0.080 3 126651323 intron variant T/C snv 0.48 0.010 1.000 1 2012 2012
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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2004 2004
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: rs7356
rs7356
RPA2
2 1.000 0.080 1 27891589 3 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2017 2018
dbSNP: rs2853668
rs2853668 		5 0.882 0.080 5 1299910 upstream gene variant G/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs5743100
rs5743100
PMS1
1 1.000 0.080 2 189841127 intron variant G/T snv 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs6854845
rs6854845 		6 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2017 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: rs776197565
rs776197565
APC
5 0.827 0.120 5 112819214 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs17239025
rs17239025 		1 1.000 0.080 13 30765768 downstream gene variant G/C snv 4.1E-02 0.010 1.000 1 2013 2013