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: rs1057519691
rs1057519691
PCSK9
2 0.925 0.080 1 55043958 missense variant T/C;G snv 0.700 1.000 4 2012 2017
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.040 1.000 4 2007 2014
dbSNP: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.740 1.000 4 2005 2018
dbSNP: rs564427867
rs564427867
PCSK9
6 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.720 1.000 2 2010 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs143394031
rs143394031
PCSK9
2 0.925 0.080 1 55058640 missense variant G/A;C;T snv 1.6E-05; 4.9E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs185392267
rs185392267
PCSK9
1 1.000 0.080 1 55043921 missense variant C/T snv 2.0E-05 3.5E-05 0.700 1.000 1 2015 2015
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.710 1.000 1 2017 2017
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: 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: 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: 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: 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: rs793888521
rs793888521
PCSK9
1 1.000 0.080 1 55052364 missense variant G/A snv 2.0E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs11583680
rs11583680
PCSK9
3 0.882 0.200 1 55039995 missense variant C/G;T snv 1.6E-05; 0.11 0.700 0
dbSNP: rs1254346075
rs1254346075
PCSK9
1 1.000 0.080 1 55057508 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1372204035
rs1372204035
PCSK9
1 1.000 0.080 1 55039977 missense variant C/G snv 0.700 0
dbSNP: rs139669564
rs139669564
PCSK9
1 1.000 0.080 1 55058631 missense variant G/A snv 2.5E-04 9.1E-05 0.700 0
dbSNP: rs141502002
rs141502002
PCSK9
3 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.700 0
dbSNP: rs1553135400
rs1553135400
PCSK9
1 1.000 0.080 1 55039913 missense variant G/A snv 0.700 0
dbSNP: rs1553135406
rs1553135406
PCSK9
1 1.000 0.080 1 55039920 frameshift variant C/- delins 0.700 0
dbSNP: rs1553135930
rs1553135930
PCSK9
1 1.000 0.080 1 55043883 missense variant A/C snv 0.700 0