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: rs1050283
rs1050283
OLR1
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2010 2010
dbSNP: rs5925
rs5925
LDLR
7 0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37 0.010 1.000 1 2012 2012
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2013 2013
dbSNP: rs10780199
rs10780199
CACNA1B
1 1.000 0.120 9 138058845 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs4382936
rs4382936
P2RY2
1 1.000 0.120 11 73241355 non coding transcript exon variant A/C snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs9621187
rs9621187
SMTN
1 1.000 0.120 22 31103532 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs2275235
rs2275235
CTSS
1 1.000 0.120 1 150757803 intron variant A/G snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2012 2012
dbSNP: rs13412
rs13412
P3H4 ; FKBP10
1 1.000 0.120 17 41811190 missense variant T/A;C snv 0.38 0.34 0.010 1.000 1 2019 2019
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2012 2012
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs7042521
rs7042521
CACNA1B ; LOC100133077
1 1.000 0.120 9 137889440 intron variant C/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs2241883
rs2241883
FABP1
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.020 1.000 2 2008 2016
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs2278986
rs2278986
SCARB1
2 0.925 0.120 12 124814823 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs11833579
rs11833579 		6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7956547
rs7956547
IGF1
2 0.925 0.120 12 102465038 intron variant T/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs11137351
rs11137351
CACNA1B ; LOC101928786
1 1.000 0.120 9 138045676 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs2108622
rs2108622
CYP4F2
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs2232582
rs2232582
LBP
3 0.882 0.160 20 38350862 synonymous variant T/C snv 0.16 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs10898909
rs10898909
P2RY2
2 0.925 0.120 11 73241451 non coding transcript exon variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1057335
rs1057335
SERPINF2
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs494860
rs494860
PROZ ; PCID2
1 1.000 0.120 13 113164695 intron variant T/A snv 0.26 0.19 0.010 1.000 1 2018 2018