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: rs1287152741
rs1287152741
DHFR
2 0.925 0.080 5 80633984 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1289280947
rs1289280947
CDKN2A
5 0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2007 2007
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 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 0.010 1.000 1 2019 2019
dbSNP: rs13254738
rs13254738
PCAT1 ; PRNCR1 ; CASC19
8 0.807 0.160 8 127092098 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2019 2019
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: rs1365611
rs1365611 		2 0.925 0.080 4 174462542 intergenic variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1371367785
rs1371367785
FADD
1 1.000 0.080 11 70206265 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1383147053
rs1383147053
DLD
4 0.882 0.120 7 107901762 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1390282714
rs1390282714
MAPK1
2 0.925 0.080 22 21769233 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1418586322
rs1418586322
MLH1
6 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1425164489
rs1425164489
TCN2
2 0.925 0.080 22 30617374 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1440032367
rs1440032367
COL11A2
3 0.925 0.080 6 33189169 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1443465532
rs1443465532
VEGFA
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1450081432
rs1450081432
PMS2
4 0.851 0.120 7 5987230 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
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: rs147198552
rs147198552
CXCR4
3 0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1503185
rs1503185
PTPRJ
8 0.807 0.120 11 48125070 missense variant G/A snv 0.18 0.19 0.010 1.000 1 2010 2010