Gene: LDLR ×
Source: CLINVAR ×
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: rs730882085
rs730882085
LDLR
3 0.882 0.080 19 11105495 missense variant T/C;G snv 4.0E-06 0.700 1.000 3 2010 2018
dbSNP: rs376459828
rs376459828
LDLR
5 0.882 0.080 19 11105496 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 1992 2017
dbSNP: rs875989900
rs875989900
LDLR
2 0.925 0.080 19 11105306 missense variant T/C;G snv 4.0E-06 0.700 1.000 5 2000 2017
dbSNP: rs387906305
rs387906305
LDLR
3 0.882 0.080 19 11105586 frameshift variant AC/- del 4.0E-06 0.700 1.000 5 1993 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: 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: 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: 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: 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: rs121908028
rs121908028
LDLR
5 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: rs121908029
rs121908029
LDLR
10 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: 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: 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: rs531005522
rs531005522
LDLR ; MIR6886
2 0.925 0.080 19 11113530 splice region variant C/G snv 1.2E-05 3.5E-05 0.700 1.000 2 2009 2014
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: rs121908026
rs121908026
LDLR
6 0.851 0.160 19 11105436 missense variant C/T snv 1.6E-05 3.5E-05 0.700 1.000 9 1989 2016
dbSNP: rs752596535
rs752596535
LDLR
5 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 1.000 7 1995 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: rs570942190
rs570942190
LDLR ; MIR6886
7 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 14 1997 2017
dbSNP: rs121908025
rs121908025
LDLR
5 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.710 1.000 9 1990 2014
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: rs28942084
rs28942084
LDLR
9 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.710 1.000 11 1989 2015
dbSNP: rs144614838
rs144614838
LDLR ; MIR6886
5 0.882 0.080 19 11113608 missense variant G/A;T snv 2.8E-05 2.8E-05 0.700 1.000 12 1992 2017
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: rs139043155
rs139043155
LDLR
10 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 1.000 14 1992 2016