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: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2008 2008
dbSNP: rs2228612
rs2228612
DNMT1
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs11685424
rs11685424
IL1RL1
2 0.925 0.040 2 102310521 upstream gene variant G/A snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs6543116
rs6543116
IL1RL1
3 0.882 0.120 2 102311266 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs3821204
rs3821204
IL18R1 ; IL1RL1
6 0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs12999364
rs12999364
IL18R1
1 1.000 0.040 2 102357669 intron variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.020 1.000 2 2012 2013
dbSNP: rs2802292
rs2802292
FOXO3
6 0.851 0.160 6 108587315 intron variant G/T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2012 2012
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2001 2001
dbSNP: rs544456198
rs544456198
LDLR
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs796145467
rs796145467
LDLR
3 0.925 0.080 19 11123310 synonymous variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.070 0.857 7 2007 2017
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.030 0.667 3 2009 2018
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.060 0.833 6 2008 2018
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2002 2002
dbSNP: rs5193
rs5193
AGTR2
2 1.000 0.040 X 116173571 3 prime UTR variant G/T snv 0.19 0.010 < 0.001 1 2006 2006
dbSNP: rs5194
rs5194
AGTR2
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2004 2018
dbSNP: rs13306560
rs13306560
CLCN6 ; MTHFR
3 1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.010 1.000 1 2005 2005