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: rs3732410
rs3732410
GOLGB1
1 3 121696873 missense variant T/C;G snv 0.23; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7025417
rs7025417
IL33 ; LOC107987046
11 0.752 0.280 9 6240084 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs877087
rs877087
RYR3
4 0.882 0.080 15 33582074 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 0.833 6 2005 2016
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 1.000 3 2003 2019
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 2012 2016
dbSNP: rs11237379
rs11237379
NDUFC2 ; NDUFC2-KCTD14
2 1.000 0.080 11 78074911 intron variant T/C snv 0.38 0.020 1.000 2 2016 2019
dbSNP: rs17782313
rs17782313 		34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.020 1.000 2 2011 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2005 2019
dbSNP: rs562962093
rs562962093
MBL2
13 0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 0.020 1.000 2 2015 2017
dbSNP: rs5918
rs5918
ITGB3
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.020 1.000 2 2011 2014
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.020 1.000 2 2014 2015
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.710 1.000 2 2010 2016
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.710 1.000 2 2017 2018
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs11172113
rs11172113
LRP1
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs11240065
rs11240065
LINC00624
1 1 147468451 intron variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs12037987
rs12037987
WNT2B
2 1 112500200 intron variant T/C snv 8.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs12646447
rs12646447 		1 4 110778170 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs12932445
rs12932445
ZFHX3
3 0.925 0.080 16 73035989 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1421085
rs1421085
FTO
28 0.752 0.280 16 53767042 intron variant T/C snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs161810
rs161810
TNFRSF9
4 0.925 0.120 1 7940737 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs17228212
rs17228212
SMAD3
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.010 < 0.001 1 2013 2013