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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.800 15 2001 2020
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.050 1.000 5 2009 2020
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.040 1.000 4 2008 2020
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 1.000 2 2014 2020
dbSNP: rs6850
rs6850
PPIA ; LOC105375259
9 0.790 0.160 7 44796715 5 prime UTR variant A/G;T snv 0.26; 4.0E-06 0.020 1.000 2 2016 2020
dbSNP: rs10159239
rs10159239
NLRP3
3 0.882 0.040 1 247443750 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2020 2020
dbSNP: rs72658855
rs72658855
LDLR
3 0.882 0.040 19 11100245 missense variant C/G;T snv 2.3E-03 9.4E-03 0.010 1.000 1 2020 2020
dbSNP: rs756601757
rs756601757
USF1 ; TSTD1
3 0.882 0.040 1 161040847 missense variant G/A snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs972655070
rs972655070
USF1 ; TSTD1
3 0.882 0.040 1 161040282 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.849 53 1998 2019
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.900 0.944 36 2007 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 0.889 27 1998 2019
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.100 0.958 24 2008 2019
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.923 13 2006 2019
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.890 1.000 12 2007 2019
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.100 1.000 12 2000 2019
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.100 1.000 11 2009 2019
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.100 1.000 11 2003 2019
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.760 1.000 11 2015 2019
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.100 1.000 10 2008 2019
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 0.100 0.900 10 2014 2019
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.090 1.000 9 2012 2019
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.090 1.000 9 2008 2019
dbSNP: rs3798220
rs3798220
LPA
16 0.732 0.160 6 160540105 missense variant T/C snv 5.6E-02 3.1E-02 0.090 0.778 9 2007 2019