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: rs908832
rs908832
ABCA2
4 0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96 0.010 < 0.001 1 2006 2006
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.040 0.750 4 2005 2015
dbSNP: rs352493
rs352493
SIRT6 ; ANKRD24
3 0.882 0.040 19 4180839 missense variant C/G;T snv 0.88 0.010 1.000 1 2016 2016
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 2017 2017
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.010 1.000 1 2016 2016
dbSNP: rs2298566
rs2298566
SNX19
5 0.827 0.040 11 130880747 missense variant A/C;T snv 0.77; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.917 36 1998 2019
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 2014 2014
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 0.030 1.000 3 2015 2017
dbSNP: rs2168518
rs2168518
CSK ; MIR4513
4 0.851 0.160 15 74788737 mature miRNA variant G/A snv 0.71 0.44 0.010 1.000 1 2014 2014
dbSNP: rs428785
rs428785
ADAMTS1
3 0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78 0.010 1.000 1 2008 2008
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 < 0.001 1 2012 2012
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2008 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 2013 2013
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.040 1.000 4 2006 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.030 1.000 3 2011 2013
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs1208
rs1208
NAT2
8 0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.040 1.000 4 2009 2019
dbSNP: rs7195830
rs7195830
CYBA
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.020 1.000 2 2013 2018