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: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 1998 2008
dbSNP: rs1172805138
rs1172805138
LDLR
1 1.000 0.080 19 11089600 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs148181903
rs148181903
LDLR
2 0.925 0.160 19 11116990 missense variant G/A;T snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs5930
rs5930
LDLR ; MIR6886
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.010 1.000 1 2019 2019
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2008 2008
dbSNP: rs875989939
rs875989939
LDLR
1 1.000 0.080 19 11123182 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs879255085
rs879255085
LDLR
2 0.925 0.160 19 11120203 missense variant G/A;T snv 0.010 1.000 1 2008 2008