Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs137929307
LDLR
0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 10
rs139043155
LDLR
0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 10
rs28942084
LDLR
0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 9
rs750518671
LDLR
0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 9
rs373822756
LDLR
0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 8
rs28942080
LDLR ; MIR6886
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
rs11547917
LDLR
0.807 0.200 19 11107491 stop gained C/A;G;T snv 7
rs879255051
LDLR
0.827 0.120 19 11120091 splice acceptor variant G/A;C snv 7
rs879254838
LDLR ; MIR6886
0.827 0.120 19 11113314 missense variant A/C;T snv 7
rs193922567
MIR6886 ; LDLR
0.807 0.120 19 11113451 splice donor variant T/A;C snv 7
rs730882094
LDLR
0.827 0.120 19 11110658 missense variant A/C;G snv 1.6E-05 6
rs879254592
LDLR
0.827 0.120 19 11105517 missense variant G/A;C;T snv 6
rs879254712
LDLR
0.827 0.200 19 11107470 frameshift variant C/- del 6
rs879254977
LDLR
0.827 0.120 19 11116168 stop gained -/GCTGGTGA delins 6
rs879255038
LDLR
0.851 0.160 19 11116982 missense variant C/G;T snv 4.0E-06 6
rs879255196
LDLR
0.827 0.120 19 11129519 missense variant T/G snv 6
rs146651743
LDLR
0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04 5
rs770744861
LDLR
0.851 0.120 19 11120405 missense variant G/A snv 4.0E-06 5
rs755449669
LDLR ; MIR6886
0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 5
rs879254768
LDLR
0.882 0.080 19 11110757 splice donor variant -/ATGCGAAG delins 4
rs879254937
MIR6886 ; LDLR
0.882 0.160 19 11113728 missense variant A/G snv 4