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: rs1209809979
rs1209809979
AKR1A1
3 0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1235228469
rs1235228469
PIK3CB
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12362504
rs12362504
SBF2 ; LOC101928008
2 0.925 0.120 11 9907995 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs12413624
rs12413624 		5 0.851 0.120 10 118519432 intergenic variant T/A snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs12456874
rs12456874
LDLRAD4
2 0.925 0.120 18 13366863 intron variant A/G snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs12478462
rs12478462 		1 1.000 0.120 2 152798206 intergenic variant T/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs12620038
rs12620038
EPCAM-DT
1 1.000 0.120 2 47248996 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1276300653
rs1276300653
OGG1 ; CAMK1
2 0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12939944
rs12939944
MAP2K4
2 0.925 0.120 17 12056502 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs12951345
rs12951345
HNF1B ; LOC105371754
1 1.000 0.120 17 37717865 intron variant C/A snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs1318
rs1318
PITPNC1 ; LOC101928045
2 0.925 0.120 17 67695266 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1326889
rs1326889
LOC105373166
1 1.000 0.120 1 230727252 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13303010
rs13303010
NOC2L ; KLHL17
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.710 < 0.001 1 2018 2018
dbSNP: rs1336539869
rs1336539869
CDK4
2 0.925 0.120 12 57751681 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1339638227
rs1339638227
CDKN2A
2 0.925 0.120 9 21971119 missense variant T/C snv 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs1370041903
rs1370041903
PRKN
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs138147246
rs138147246
OGG1
2 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs139599857
rs139599857
XRCC1
3 0.882 0.120 19 43545922 missense variant C/G snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs139632793
rs139632793
OGG1
2 0.925 0.120 3 9751114 missense variant G/C snv 5.2E-05 1.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs141095230
rs141095230
MGMT
2 0.925 0.120 10 129536277 missense variant C/A;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1412335442
rs1412335442
PIK3CG
2 0.925 0.120 7 106868317 missense variant G/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1448106115
rs1448106115
PMS2
2 0.925 0.120 7 5989944 missense variant T/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs145574072
rs145574072
OGG1
2 0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs145733073
rs145733073
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.120 2 233682175 missense variant T/C;G snv 4.0E-06; 1.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs149243735
rs149243735
OGG1
2 0.925 0.120 3 9751076 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014