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: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2011 2011
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 1.000 1 2012 2012
dbSNP: rs697829
rs697829
KCNE5
2 0.925 0.160 X 109623948 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2013 2014
dbSNP: rs10811656
rs10811656
CDKN2B-AS1
7 0.807 0.200 9 22124473 intron variant C/T snv 0.47 0.020 1.000 2 2013 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.020 1.000 2 2013 2014
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs10757279
rs10757279
CDKN2B-AS1
3 0.925 0.040 9 22124631 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs11573156
rs11573156
PLA2G2A
5 0.882 0.240 1 19979653 5 prime UTR variant G/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs12149545
rs12149545 		7 0.851 0.080 16 56959249 upstream gene variant G/A snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1333047
rs1333047
CDKN2B-AS1
9 0.790 0.240 9 22124505 intron variant A/T snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1776964
rs1776964
SLC23A2
1 1.000 0.040 20 4899662 synonymous variant G/A snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs6139591
rs6139591
SLC23A2
1 1.000 0.040 20 4970713 intron variant G/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs708272
rs708272
CETP
24 0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38 0.010 1.000 1 2013 2013
dbSNP: rs6922269
rs6922269
MTHFD1L
7 0.807 0.200 6 150931849 intron variant G/A snv 0.35 0.020 1.000 2 2014 2015
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs16985615
rs16985615
LOC107985383
2 1.000 0.040 20 23661790 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs3087459
rs3087459
EDN1
2 0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs35610040
rs35610040
CST3
2 1.000 0.040 20 23635832 intron variant T/C snv 0.19 0.700 1.000 1 2014 2014