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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs875989911
rs875989911
LDLR
3 0.882 0.080 19 11107512 missense variant G/A snv 7.0E-06 0.700 1.000 7 1997 2017
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: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.700 1.000 7 1998 2016
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: rs368657165
rs368657165
LDLR
6 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 1.000 8 1999 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: rs875989899
rs875989899
LDLR
2 0.925 0.080 19 11105279 stop gained C/A;T snv 0.700 1.000 4 1999 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: 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: rs193922567
rs193922567
LDLR ; MIR6886
7 0.807 0.120 19 11113451 splice donor variant T/A;C snv 0.700 1.000 3 2000 2002
dbSNP: rs876657697
rs876657697
LDLR ; MIR6886
2 0.925 0.080 19 11113599 frameshift variant -/C delins 0.700 1.000 2 2000 2001
dbSNP: rs879254704
rs879254704
LDLR
4 0.882 0.080 19 11107454 frameshift variant AA/- delins 0.700 1.000 2 2002 2012
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: rs879254770
rs879254770
LDLR
5 0.882 0.080 19 11110765 splice donor variant CGAAGGTG/- delins 0.700 1.000 1 2006 2006