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: rs11547917
rs11547917
LDLR
7 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0
dbSNP: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
dbSNP: rs139043155
rs139043155
LDLR
10 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs146651743
rs146651743
LDLR
5 0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs193922567
rs193922567
LDLR ; MIR6886
7 0.807 0.120 19 11113451 splice donor variant T/A;C snv 0.700 0
dbSNP: rs28942080
rs28942080
LDLR ; MIR6886
8 0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs373822756
rs373822756
LDLR
8 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.700 0
dbSNP: rs587778779
rs587778779
CYP27A1
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs730882094
rs730882094
LDLR
6 0.827 0.120 19 11110658 missense variant A/C;G snv 1.6E-05 0.700 0
dbSNP: rs750518671
rs750518671
LDLR
9 0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs755449669
rs755449669
LDLR ; MIR6886
5 0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs770744861
rs770744861
LDLR
5 0.851 0.120 19 11120405 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs879254592
rs879254592
LDLR
6 0.827 0.120 19 11105517 missense variant G/A;C;T snv 0.700 0
dbSNP: rs879254712
rs879254712
LDLR
6 0.827 0.200 19 11107470 frameshift variant C/- del 0.700 0
dbSNP: rs879254768
rs879254768
LDLR
4 0.882 0.080 19 11110757 splice donor variant -/ATGCGAAG delins 0.700 0
dbSNP: rs879254838
rs879254838
LDLR ; MIR6886
7 0.827 0.120 19 11113314 missense variant A/C;T snv 0.700 0
dbSNP: rs879254937
rs879254937
LDLR ; MIR6886
4 0.882 0.160 19 11113728 missense variant A/G snv 0.700 0
dbSNP: rs879254977
rs879254977
LDLR
6 0.827 0.120 19 11116168 stop gained -/GCTGGTGA delins 0.700 0
dbSNP: rs879255038
rs879255038
LDLR
6 0.851 0.160 19 11116982 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs879255051
rs879255051
LDLR
7 0.827 0.120 19 11120091 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs879255196
rs879255196
LDLR
6 0.827 0.120 19 11129519 missense variant T/G snv 0.700 0