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: rs868014
rs868014
MTHFR ; C1orf167
1 1.000 0.080 1 11789390 missense variant A/G snv 0.99 0.94 0.010 1.000 1 2017 2017
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.020 1.000 2 2014 2015
dbSNP: rs783396
rs783396
CRYBG1
2 1.000 0.080 6 106539495 missense variant A/C snv 0.93 0.93 0.010 1.000 1 2012 2012
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs651821
rs651821
APOA5
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.010 1.000 1 2017 2017
dbSNP: rs6544718
rs6544718
ABCG8
4 0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2468844
rs2468844
SAA2 ; SAA2-SAA4
1 1.000 0.080 11 18245480 missense variant C/A;T snv 0.84 0.80 0.010 1.000 1 2017 2017
dbSNP: rs2682818
rs2682818
LIN7A ; MIR618 ; LOC105369869
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 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 2014 2014
dbSNP: rs1654413
rs1654413
GP6 ; LOC107985325
1 1.000 0.080 19 55014991 missense variant A/G;T snv 3.7E-05; 2.0E-05; 0.80; 4.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 20 2005 2019
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 1.000 3 2010 2019
dbSNP: rs4833837
rs4833837
IL21
5 0.827 0.200 4 122615808 synonymous variant G/A snv 0.74 0.77 0.010 < 0.001 1 2014 2014
dbSNP: rs35196866
rs35196866
RXRA ; MIR4669
1 1.000 0.080 9 134379472 5 prime UTR variant C/A snv 0.74 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1554286
rs1554286
IL10 ; IL19
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 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 0.080 0.875 8 2014 2019
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.020 1.000 2 2007 2018
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 2018 2018
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 2016 2016
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2006 2006
dbSNP: rs2229383
rs2229383
ILF3
2 1.000 0.080 19 10683954 synonymous variant G/A;C;T snv 4.0E-06; 0.68 0.700 1.000 1 2018 2018
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs4636297
rs4636297
EGFL7 ; MIR126
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.020 1.000 2 2017 2019
dbSNP: rs6565653
rs6565653
SLC26A11
1 1.000 0.080 17 80227984 intron variant T/A;G snv 4.4E-06; 0.63 0.700 1.000 1 2016 2016