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: rs486438
rs486438
PDE4B
2 1 66208980 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs67710536
rs67710536
RPS6
2 9 19376257 3 prime UTR variant A/C;T snv 0.12; 4.3E-06 0.20 0.700 1.000 1 2017 2017
dbSNP: rs7955221
rs7955221 		2 12 100456972 intergenic variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9411378
rs9411378
ABO
5 9 133270015 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.800 1.000 16 2007 2019
dbSNP: rs562338
rs562338 		21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.800 1.000 8 2008 2019
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.800 1.000 6 2012 2019
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.800 1.000 6 2012 2019
dbSNP: rs9987289
rs9987289
LOC157273
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 5 2008 2013
dbSNP: rs2642438
rs2642438
MTARC1
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 4 2017 2019
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.800 1.000 4 2009 2019
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.800 1.000 4 2008 2018
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.700 1.000 4 2013 2019
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 3 2010 2018
dbSNP: rs11136341
rs11136341
PLEC
3 8 143969375 intron variant A/G snv 0.40 0.800 1.000 3 2010 2018
dbSNP: rs1129555
rs1129555
GPAM
5 10 112150963 3 prime UTR variant A/G snv 0.71 0.700 1.000 3 2015 2018
dbSNP: rs11668477
rs11668477 		7 0.925 0.080 19 11084354 downstream gene variant A/G snv 0.34 0.800 1.000 3 2008 2019
dbSNP: rs12713956
rs12713956
APOB
4 2 21018633 intron variant A/G snv 0.14 0.800 1.000 3 2012 2019
dbSNP: rs1535
rs1535
FADS2
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.800 1.000 3 2012 2019
dbSNP: rs17321515
rs17321515 		16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.800 1.000 3 2012 2019
dbSNP: rs2169387
rs2169387
LOC157273
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 3 2015 2018
dbSNP: rs2495477
rs2495477
PCSK9
3 1 55052794 splice region variant A/G snv 0.42 0.49 0.800 1.000 3 2012 2019
dbSNP: rs2954021
rs2954021 		15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 3 2010 2019
dbSNP: rs3780181
rs3780181
VLDLR ; VLDLR-AS1
4 1.000 0.320 9 2640759 intron variant A/G snv 0.11 0.800 1.000 3 2013 2018