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: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.800 1.000 17 2008 2019
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.800 1.000 5 2012 2019
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 4 2008 2019
dbSNP: rs17249141
rs17249141
LDLR
4 19 11089332 upstream gene variant C/T snv 3.3E-03 0.800 1.000 2 2013 2019
dbSNP: rs2738446
rs2738446
LDLR
4 19 11116650 intron variant C/A;G snv 0.34 0.800 1.000 2 2011 2012
dbSNP: rs2738452
rs2738452
LDLR
3 19 11118542 intron variant A/G snv 0.34 0.800 1.000 2 2012 2017
dbSNP: rs17242787
rs17242787
LDLR
3 19 11091784 intron variant T/A snv 6.4E-03 0.700 1.000 2 2012 2012
dbSNP: rs17248720
rs17248720
LDLR
4 19 11087511 upstream gene variant C/T snv 0.16 0.700 1.000 2 2012 2012
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
3 1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80 0.700 1.000 2 2017 2018
dbSNP: rs11669576
rs11669576
LDLR ; MIR6886
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs2569559
rs2569559
LDLR
3 19 11103857 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2738450
rs2738450
LDLR
3 19 11118289 intron variant C/A snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs4804144
rs4804144
LDLR
3 19 11125504 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs5742911
rs5742911
LDLR ; SPC24
3 19 11132769 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs5925
rs5925
LDLR
7 0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37 0.700 1.000 1 2012 2012
dbSNP: rs5930
rs5930
LDLR ; MIR6886
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.700 1.000 1 2012 2012
dbSNP: rs6413504
rs6413504
LDLR
3 19 11131239 intron variant A/G snv 0.45 0.39 0.700 1.000 1 2012 2012
dbSNP: rs6511721
rs6511721
LDLR
3 19 11095899 intron variant G/A snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs72658860
rs72658860
LDLR
4 1.000 0.080 19 11110681 missense variant G/A snv 8.8E-04 3.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs8102912
rs8102912
LDLR
3 19 11095299 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs8110695
rs8110695
LDLR
3 19 11095854 intron variant T/A;C snv 0.700 1.000 1 2012 2012