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 0.050 0.600 5 2005 2020
dbSNP: rs10500715
rs10500715
SBF2
2 0.925 0.120 11 9951515 intron variant T/G snv 0.39 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: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1537373
rs1537373
CDKN2B-AS1
3 0.925 0.120 9 22103342 intron variant T/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs4285214
rs4285214
ZNF608
1 1.000 0.120 5 124688588 intron variant T/G snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs9363918
rs9363918 		3 0.882 0.200 6 68432116 intron variant T/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2009 2010
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2004 2004
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: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs351365
rs351365
WNT2B
1 1.000 0.120 1 112503773 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 0.750 4 2003 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.020 1.000 2 2011 2018
dbSNP: rs6971499
rs6971499
LINC-PINT
1 1.000 0.120 7 130995762 intron variant T/C snv 0.15 0.700 1.000 2 2014 2018
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.800 1.000 2 2012 2017
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs10887710
rs10887710 		2 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11644043
rs11644043
BRD7
2 0.925 0.120 16 50327466 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
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: 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