Gene: LDLR ×
Source: GWASCAT ×
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
7 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.800 1.000 12 2008 2019
dbSNP: rs688
rs688
LDLR
2 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.800 1.000 3 2012 2019
dbSNP: rs2228671
rs2228671
LDLR
2 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 2 2008 2019
dbSNP: rs17249141
rs17249141
LDLR
3 19 11089332 upstream gene variant C/T snv 3.3E-03 0.800 1.000 1 2013 2019
dbSNP: rs2738446
rs2738446
LDLR
1 19 11116650 intron variant C/A;G snv 0.34 0.800 1.000 1 2011 2012
dbSNP: rs2738452
rs2738452
LDLR
1 19 11118542 intron variant A/G snv 0.34 0.800 1.000 1 2012 2017
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
2 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
1 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: rs72658860
rs72658860
LDLR
1 1.000 0.080 19 11110681 missense variant G/A snv 8.8E-04 3.9E-03 0.700 1.000 1 2018 2018