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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2000 2000
dbSNP: rs750594245
rs750594245
LPL
2 0.925 0.080 8 19948248 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs758493253
rs758493253
LDLR ; MIR6886
1 1.000 0.080 19 11111634 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs759003763
rs759003763
LDLR ; MIR6886
6 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs879254448
rs879254448
LDLR
4 0.925 0.080 19 11102718 missense variant G/A;C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs879254810
rs879254810
LDLR ; MIR6886
1 1.000 0.080 19 11111611 missense variant C/A;G snv 0.010 1.000 1 1997 1997
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 2014 2014
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs9370867
rs9370867
MYLIP
7 0.827 0.120 6 16145094 missense variant A/G snv 0.60 0.63 0.010 1.000 1 2014 2014