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: rs730882096
rs730882096
LDLR
5 0.882 0.080 19 11110738 missense variant G/A;T snv 2.8E-05 0.700 1.000 19 1992 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 0.700 1.000 15 1990 2016
dbSNP: rs200727689
rs200727689
LDLR
5 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 12 1997 2017
dbSNP: rs121908028
rs121908028
LDLR
6 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.700 1.000 10 1988 2016
dbSNP: rs121908030
rs121908030
LDLR
6 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 10 1985 2015
dbSNP: rs139617694
rs139617694
LDLR ; MIR6886
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 1.000 10 1995 2016
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 1.000 10 1992 2015
dbSNP: rs879254667
rs879254667
LDLR
5 0.882 0.080 19 11106631 missense variant A/C snv 0.700 1.000 10 2000 2013
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: rs793888517
rs793888517
LDLR
5 0.882 0.080 19 11102788 splice donor variant T/A;C snv 0.700 1.000 9 1995 2016
dbSNP: rs137943601
rs137943601
LDLR ; MIR6886
6 0.851 0.120 19 11113313 missense variant G/A;C snv 8.0E-06 0.700 1.000 8 1992 2015
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: rs368657165
rs368657165
LDLR
7 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 1.000 8 1999 2016
dbSNP: rs730882078
rs730882078
LDLR
4 0.882 0.080 19 11102714 missense variant C/A;T snv 8.0E-06 0.700 1.000 8 1998 2013
dbSNP: rs768563000
rs768563000
LDLR
4 0.925 0.080 19 11106588 stop gained G/A;T snv 2.8E-05 0.700 1.000 8 1992 2016
dbSNP: rs875989909
rs875989909
LDLR
5 0.882 0.080 19 11107486 missense variant C/G snv 0.700 1.000 8 1992 2016
dbSNP: rs112029328
rs112029328
LDLR
5 0.882 0.080 19 11102787 splice donor variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 7 1994 2012
dbSNP: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.700 1.000 7 1998 2016
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 1.000 7 1995 2016
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: 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: rs875989929
rs875989929
LDLR
5 0.882 0.080 19 11116888 missense variant G/A;T snv 0.710 1.000 6 1992 2017
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
5 0.882 0.080 19 11113420 stop gained G/A;C;T snv 0.700 1.000 6 1992 2012
dbSNP: rs121908040
rs121908040
LDLR
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 1.000 5 1998 2015
dbSNP: rs373822756
rs373822756
LDLR
8 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.700 1.000 5 1992 2015