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: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1746661
rs1746661
FNDC5
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 1.000 1 2015 2015
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 2015 2015
dbSNP: rs544453230
rs544453230
LDLR
6 0.882 0.080 19 11110714 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 < 0.001 1 2015 2015
dbSNP: rs6066394
rs6066394
NCOA3
2 1.000 0.040 20 47581409 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs730882082
rs730882082
LDLR
5 0.882 0.080 19 11105315 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs774006043
rs774006043
ZPR1 ; APOA5
3 0.925 0.080 11 116790561 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs879254894
rs879254894
LDLR ; MIR6886
1 1.000 0.040 19 11113593 missense variant A/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
4 0.925 0.080 1 209687323 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4393158
rs4393158
HSD11B1-AS1
2 1.000 0.040 1 209678552 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs116928232
rs116928232
LIPA
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs12449157
rs12449157
GFOD2
4 1.000 0.040 16 67674994 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs16827671
rs16827671
CTSS
1 1.000 0.040 1 150766283 upstream gene variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs1984112
rs1984112
CD36
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2013 2013
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: rs4823613
rs4823613
PPARA
1 1.000 0.040 22 46202410 intron variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.010 1.000 1 2013 2013
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: 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: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs4149081
rs4149081
SLCO1B1
5 1.000 0.040 12 21225087 intron variant G/A snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs879254509
rs879254509
LDLR
3 0.882 0.080 19 11105295 stop gained C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs879255145
rs879255145
LDLR
4 0.882 0.080 19 11120514 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012