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 1 2011 2011
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2010 2013
dbSNP: rs1249040838
rs1249040838
LDLR ; MIR6886
5 0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs759003763
rs759003763
LDLR ; MIR6886
6 0.827 0.120 19 11113585 missense variant G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs879254582
rs879254582
LDLR
4 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs879254693
rs879254693
LDLR
7 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs879254840
rs879254840
LDLR ; MIR6886
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs879254850
rs879254850
LDLR ; MIR6886
9 0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06 0.010 < 0.001 1 2015 2015