Gene: PCSK9 ×
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: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 12 2008 2019
dbSNP: rs2479409
rs2479409
PCSK9
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 6 2010 2019
dbSNP: rs11806638
rs11806638
PCSK9
3 1 55052487 intron variant C/A;G snv 0.800 1.000 3 2012 2019
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: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.800 1.000 3 2012 2017
dbSNP: rs17111503
rs17111503
PCSK9
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.800 1.000 2 2012 2018
dbSNP: rs28362286
rs28362286
PCSK9
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.700 1.000 3 2014 2019
dbSNP: rs28362263
rs28362263
PCSK9
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 1.000 2 2018 2019
dbSNP: rs499883
rs499883
PCSK9
3 1 55053501 intron variant G/A;C snv 0.700 1.000 2 2012 2012
dbSNP: rs10888898
rs10888898
PCSK9
3 1 55050835 intron variant A/G snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs11206514
rs11206514
PCSK9
3 1 55050331 intron variant C/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1165287
rs1165287
PCSK9
3 1 55054539 intron variant G/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs11800231
rs11800231
PCSK9
2 1 55052267 non coding transcript exon variant G/A;T snv 5.2E-02; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs12136600
rs12136600
PCSK9
1 1 55055522 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs151193009
rs151193009
PCSK9
2 1 55043912 missense variant C/T snv 7.4E-04 1.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs2479410
rs2479410
PCSK9
3 1 55040188 intron variant G/A snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs2479413
rs2479413
PCSK9
3 1 55053009 intron variant C/T snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs28362261
rs28362261
PCSK9
6 0.851 0.160 1 55058129 missense variant A/G snv 1.2E-03 4.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs471705
rs471705
PCSK9
3 1 55055569 intron variant T/A;G snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs533375
rs533375
PCSK9
2 1 55057688 intron variant A/G snv 0.82 0.700 1.000 1 2012 2012
dbSNP: rs557435
rs557435
PCSK9
3 1 55055191 intron variant A/G snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.700 1.000 1 2012 2012
dbSNP: rs565436
rs565436
PCSK9
3 1 55058928 intron variant G/A;C snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs631220
rs631220
PCSK9
2 1 55061806 intron variant A/G snv 0.82 0.700 1.000 1 2012 2012