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 0.750 1.000 6 2007 2018
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.040 0.750 4 2007 2015
dbSNP: rs28362286
rs28362286
PCSK9
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.010 1.000 1 2008 2008
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: rs67608943
rs67608943
PCSK9
8 0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs752506225
rs752506225
PCSK9
1 1.000 0.040 1 55044026 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017