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: rs121908030
rs121908030
LDLR
6 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs121908040
rs121908040
LDLR
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
dbSNP: rs139617694
rs139617694
LDLR ; MIR6886
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs146200173
rs146200173
LDLR ; MIR6886
3 0.882 0.080 19 11113292 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs368657165
rs368657165
LDLR
7 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
dbSNP: rs370777955
rs370777955
LDLR ; MIR6886
3 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs374045590
rs374045590
LDLR
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs377271627
rs377271627
LDLR
2 0.925 0.080 19 11102769 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs1047731829
rs1047731829
LDLR
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1279368649
rs1279368649
LDLR
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1308646934
rs1308646934
LDLR
1 1.000 0.040 19 11129527 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs138947766
rs138947766
LDLR
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs373371572
rs373371572
LDLR
6 0.851 0.080 19 11116936 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs544453230
rs544453230
LDLR
6 0.882 0.080 19 11110714 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs730882082
rs730882082
LDLR
5 0.882 0.080 19 11105315 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs730882106
rs730882106
LDLR ; MIR6886
5 0.882 0.080 19 11113752 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs747507019
rs747507019
LDLR
3 0.882 0.080 19 11110690 missense variant C/T snv 6.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs749780672
rs749780672
LDLR ; MIR6886
2 0.925 0.080 19 11113426 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs768925824
rs768925824
LDLR
4 0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008