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: rs544456198
rs544456198
LDLR
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.020 1.000 2 2003 2004
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.020 1.000 2 2003 2004
dbSNP: rs1131692208
rs1131692208
LDLR ; MIR6886
4 0.925 0.160 19 11113603 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs1433099
rs1433099
LDLR ; SPC24
3 0.882 0.160 19 11131982 3 prime UTR variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs776421777
rs776421777
LDLR
5 0.882 0.160 19 11100246 stop gained G/A;T snv 2.4E-05 0.010 1.000 1 2018 2018