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: rs33972927
rs33972927
HBB
2 0.925 0.080 11 5226612 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2004 2004
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 2007 2007
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs515135
rs515135 		9 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs533896621
rs533896621
LDLR
2 0.925 0.080 19 11105415 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2007 2007
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2009 2009
dbSNP: rs6180
rs6180
GHR
6 0.827 0.160 5 42719137 missense variant A/C snv 0.44 0.43 0.010 1.000 1 2003 2003
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 2019 2019
dbSNP: rs745864657
rs745864657
PCSK9
1 1.000 0.080 1 55063478 frameshift variant CCGGGACG/- delins 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs750158340
rs750158340
APOB
1 1.000 0.080 2 21028340 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs752684873
rs752684873
LDLR
2 0.925 0.080 19 11105468 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs752849346
rs752849346
LDLRAP1
3 0.882 0.080 1 25554000 missense variant C/T snv 3.2E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs759003763
rs759003763
LDLR ; MIR6886
6 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs770256556
rs770256556
PCSK9
1 1.000 0.080 1 55056076 missense variant C/A;T snv 4.3E-06; 4.3E-06 0.010 1.000 1 2010 2010
dbSNP: rs780214893
rs780214893
PCSK9
1 1.000 0.080 1 55063481 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs879254449
rs879254449
LDLR
3 0.882 0.080 19 11102723 missense variant C/T snv 0.010 < 0.001 1 1997 1997
dbSNP: rs879255103
rs879255103
LDLR
2 0.925 0.080 19 11120372 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs9370867
rs9370867
MYLIP
7 0.827 0.120 6 16145094 missense variant A/G snv 0.60 0.63 0.010 1.000 1 2014 2014
dbSNP: rs45508991
rs45508991
LDLR
2 0.925 0.080 19 11123210 missense variant C/T snv 5.5E-03 5.0E-03 0.020 1.000 2 1997 1998
dbSNP: rs781757776
rs781757776
LDLR
2 0.925 0.080 19 11123300 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 1997 1998