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: 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: 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: rs771019366
rs771019366
LDLR
5 0.882 0.080 19 11102742 missense variant A/C;G snv 0.700 1.000 5 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: rs267607213
rs267607213
LDLR
6 0.851 0.160 19 11100286 stop gained G/A;T snv 0.700 1.000 4 1992 2015
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: rs875989899
rs875989899
LDLR
2 0.925 0.080 19 11105279 stop gained C/A;T snv 0.700 1.000 4 1999 2015
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: 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: rs875989916
rs875989916
LDLR ; MIR6886
3 0.882 0.080 19 11111568 frameshift variant -/GTGG delins 0.700 1.000 3 1992 2006
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: rs1175281029
rs1175281029
LDLR
1 1.000 0.080 19 11131302 missense variant G/A snv 0.010 1.000 1 1996 1996
dbSNP: rs193922566
rs193922566
LDLR
4 0.882 0.080 19 11110766 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
7 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 1995 1995
dbSNP: rs374045590
rs374045590
LDLR
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs753707206
rs753707206
LDLR
3 0.882 0.080 19 11116954 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs875989915
rs875989915
LDLR ; MIR6886
3 0.882 0.080 19 11111526 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs875989921
rs875989921
LDLR ; MIR6886
3 0.882 0.080 19 11113624 stop gained G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs879254714
rs879254714
LDLR
3 0.882 0.080 19 11107476 missense variant A/C;G snv 0.010 1.000 1 1999 1999
dbSNP: rs879254747
rs879254747
LDLR
4 0.882 0.080 19 11110688 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs879254753
rs879254753
LDLR
3 0.882 0.080 19 11110723 missense variant T/A;C;G snv 0.010 1.000 1 1996 1996
dbSNP: rs879254770
rs879254770
LDLR
5 0.882 0.080 19 11110765 splice donor variant CGAAGGTG/- delins 0.700 1.000 1 2006 2006
dbSNP: rs879254907
rs879254907
LDLR ; MIR6886
3 0.882 0.080 19 11113625 stop gained G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs879255000
rs879255000
LDLR
6 0.851 0.080 19 11116882 missense variant T/C;G snv 0.010 1.000 1 2012 2012