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: rs1555804717
rs1555804717
LDLR ; MIR6886
4 0.882 0.120 19 11111523 frameshift variant A/- del 0.700 0
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs267606663
rs267606663
APOE
3 0.925 0.080 19 44909021 missense variant G/A;C snv 7.3E-06 0.010 1.000 1 1996 1996
dbSNP: rs28362261
rs28362261
PCSK9
6 0.851 0.160 1 55058129 missense variant A/G snv 1.2E-03 4.8E-03 0.010 1.000 1 2006 2006
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs771479424
rs771479424
PCSK9
3 0.882 0.120 1 55052764 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs774439908
rs774439908
LDLR ; MIR6886
5 0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs875989914
rs875989914
LDLR
3 0.882 0.080 19 11110760 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 1996 1996
dbSNP: rs879254850
rs879254850
LDLR ; MIR6886
9 0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2006 2006