Disease: Eyelid Xanthoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137929307
LDLR
0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 12
rs28942084
LDLR
0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 11
rs139043155
LDLR
0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 10
rs750518671
LDLR
0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 9
rs28942080
LDLR ; MIR6886
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
rs193922567
MIR6886 ; LDLR
0.807 0.120 19 11113451 splice donor variant T/A;C snv 7
rs570942190
MIR6886 ; LDLR
0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 7
rs730882102
MIR6886 ; LDLR
0.827 0.120 19 11113590 missense variant G/A;T snv 5.6E-05 2.1E-05 6
rs200727689
LDLR
0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 5