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 0.730 1.000 6 2010 2019
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.050 1.000 5 2009 2020
dbSNP: rs72555377
rs72555377
PCSK9
1 1.000 0.040 1 55039880 inframe insertion GCTGCTGCT/-;GCT;GCTGCT;GCTGCTGCTGCT;GCTGCTGCTGCTGCT;GCTGCTGCTGCTGCTGCT;GCTGCTGCTGCTGCTGCTGCT;GCTGCTGCTGCTGCTGCTGCTGCT delins 0.010 1.000 1 2015 2015