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: rs28942080
rs28942080
LDLR ; MIR6886
8 0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 1.000 8 1990 2017
dbSNP: rs875989926
rs875989926
LDLR
3 0.882 0.080 19 11116213 splice donor variant G/A;C;T snv 0.700 1.000 6 1999 2016
dbSNP: rs879255000
rs879255000
LDLR
6 0.851 0.080 19 11116882 missense variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs875989929
rs875989929
LDLR
5 0.882 0.080 19 11116888 missense variant G/A;T snv 0.710 1.000 6 1992 2017
dbSNP: rs730882109
rs730882109
LDLR
5 0.882 0.080 19 11116900 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 1.000 5 1994 2019
dbSNP: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 1.000 18 1992 2016
dbSNP: rs753707206
rs753707206
LDLR
3 0.882 0.080 19 11116954 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs746118995
rs746118995
LDLR
5 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 8 1997 2017
dbSNP: rs867272973
rs867272973
LDLR
3 0.882 0.080 19 11120156 frameshift variant C/- delins 0.700 0
dbSNP: rs121908031
rs121908031
LDLR
6 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.700 1.000 9 1987 2018
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.710 1.000 12 1989 2015
dbSNP: rs137853965
rs137853965
LDLR
2 0.925 0.080 19 11120442 frameshift variant -/C delins 7.0E-06 0.700 1.000 5 2005 2016
dbSNP: rs201573863
rs201573863
LDLR
5 0.882 0.080 19 11120478 missense variant C/T snv 2.0E-05 9.8E-05 0.700 1.000 10 1995 2016
dbSNP: rs1555808118
rs1555808118
LDLR
2 0.925 0.080 19 11123291 frameshift variant -/T delins 0.700 0
dbSNP: rs750518671
rs750518671
LDLR
9 0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 6 1995 2016
dbSNP: rs374045590
rs374045590
LDLR
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1175281029
rs1175281029
LDLR
1 1.000 0.080 19 11131302 missense variant G/A snv 0.010 1.000 1 1996 1996
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 41 1989 2016
dbSNP: rs144467873
rs144467873
APOB
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 14 1995 2014
dbSNP: rs146377316
rs146377316
APOB
2 0.925 0.080 2 21007693 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1032566999
rs1032566999
SREBF2
2 0.925 0.080 22 41903099 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs564427867
rs564427867
PCSK9
6 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.700 1.000 6 2008 2015