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: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
3 0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35 0.010 1.000 1 2008 2008
dbSNP: rs515135
rs515135 		9 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 0.010 < 0.001 1 2019 2019
dbSNP: rs6720173
rs6720173
DYNC2LI1 ; ABCG5
5 0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 0.010 1.000 1 2008 2008
dbSNP: rs6886
rs6886
CAPG
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs693
rs693
APOB
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2013 2013
dbSNP: rs7566605
rs7566605
LOC107985940
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs777249279
rs777249279
APOB
2 0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs6782181
rs6782181
MRAS
6 0.851 0.160 3 138386212 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4580704
rs4580704
CLOCK
13 0.790 0.200 4 55460540 intron variant G/C snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs761675397
rs761675397
ABCG2
1 1.000 0.040 4 88114965 missense variant T/C snv 2.8E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs3761740
rs3761740
HMGCR
4 0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2010 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs619203
rs619203
ROS1
6 0.851 0.160 6 117301021 missense variant G/C snv 0.20 0.19 0.010 1.000 1 2008 2008
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2004 2004
dbSNP: rs776478288
rs776478288
PLA2G7
2 0.925 0.080 6 46716518 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1468271
rs1468271
NPY ; LOC107986777
2 1.000 0.040 7 24287362 intron variant C/T snv 0.97 0.020 1.000 2 2008 2009