Source: CLINVAR ×
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: rs121908030
rs121908030
LDLR
6 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs121908040
rs121908040
LDLR
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs137929307
rs137929307
LDLR
10 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
dbSNP: rs139617694
rs139617694
LDLR ; MIR6886
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs146200173
rs146200173
LDLR ; MIR6886
3 0.882 0.080 19 11113292 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs368657165
rs368657165
LDLR
6 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
dbSNP: rs370777955
rs370777955
LDLR ; MIR6886
3 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs374045590
rs374045590
LDLR
5 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs377271627
rs377271627
LDLR
2 0.925 0.080 19 11102769 stop gained C/G snv 4.0E-06 0.700 0