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: rs1169305
rs1169305
HNF1A
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2020 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2010 2010
dbSNP: rs891512
rs891512
NOS3
4 0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85 0.010 1.000 1 2018 2018
dbSNP: rs5128
rs5128
APOC3
8 0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87 0.010 1.000 1 2009 2009
dbSNP: rs767870
rs767870
ADIPOR2
4 0.882 0.120 12 1780657 intron variant G/A;C snv 0.82 0.010 1.000 1 2006 2006
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2006 2006
dbSNP: rs11574
rs11574
ID3
2 1.000 0.040 1 23559007 missense variant T/A;C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.933 15 2006 2018
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 1999 2010
dbSNP: rs222747
rs222747
TRPV1
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.060 0.667 6 2014 2019
dbSNP: rs1801262
rs1801262
NEUROD1 ; CERKL
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.010 1.000 1 2005 2005
dbSNP: rs3736544
rs3736544
CLOCK ; TMEM165
4 0.882 0.160 4 55443825 synonymous variant A/G snv 0.70 0.69 0.010 1.000 1 2016 2016
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2001 2001
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 0.500 2 2007 2012
dbSNP: rs4917
rs4917
AHSG
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2005 2005
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.020 1.000 2 2005 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2014 2017