Gene: LDLR ×
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: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.810 1.000 1 2009 2009
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.880 1.000 38 1989 2018
dbSNP: rs570942190
rs570942190
LDLR ; MIR6886
7 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.800 1.000 38 1989 2017
dbSNP: rs139043155
rs139043155
LDLR
10 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.800 1.000 33 1989 2017
dbSNP: rs373822756
rs373822756
LDLR
8 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.820 1.000 33 1989 2017
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 0.810 1.000 32 1989 2017
dbSNP: rs750518671
rs750518671
LDLR
9 0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 0.810 1.000 32 1989 2017
dbSNP: rs11547917
rs11547917
LDLR
7 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.800 1.000 31 1989 2017
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 0.800 1.000 31 1989 2017
dbSNP: rs879254965
rs879254965
LDLR
7 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.710 < 0.001 1 2019 2019
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs875989898
rs875989898
LDLR
5 0.851 0.200 19 11105220 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs879254538
rs879254538
LDLR
5 0.851 0.200 19 11105378 frameshift variant T/- del 0.700 0
dbSNP: rs879254712
rs879254712
LDLR
6 0.827 0.200 19 11107470 frameshift variant C/- del 0.700 0
dbSNP: rs121908026
rs121908026
LDLR
6 0.851 0.160 19 11105436 missense variant C/T snv 1.6E-05 3.5E-05 0.800 1.000 31 1989 2017
dbSNP: rs146651743
rs146651743
LDLR
5 0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04 0.800 1.000 31 1989 2017
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 31 1989 2017
dbSNP: rs373646964
rs373646964
LDLR ; MIR6886
5 0.882 0.160 19 11113650 missense variant G/A;C snv 2.4E-05; 4.0E-06 0.800 1.000 20 1989 2012
dbSNP: rs773658037
rs773658037
LDLR ; MIR6886
4 0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05 0.810 1.000 12 2004 2018
dbSNP: rs767767730
rs767767730
LDLR ; MIR6886
4 0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05 0.800 1.000 11 2004 2017
dbSNP: rs121908031
rs121908031
LDLR
6 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.720 1.000 2 2009 2012
dbSNP: rs776421777
rs776421777
LDLR
5 0.882 0.160 19 11100246 stop gained G/A;T snv 2.4E-05 0.710 1.000 1 2014 2014
dbSNP: rs879254693
rs879254693
LDLR
7 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 2001 2001
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: rs121908027
rs121908027
LDLR
5 0.882 0.160 19 11105557 inframe deletion TGG/- delins 0.700 0