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: rs1131692208
rs1131692208
LDLR ; MIR6886
4 0.925 0.160 19 11113603 missense variant C/T snv 0.700 0
dbSNP: rs1131692209
rs1131692209
LDLR ; MIR6886
3 1.000 0.080 19 11113632 frameshift variant A/- del 0.700 0
dbSNP: rs1131692210
rs1131692210
LDLR ; MIR6886
3 1.000 0.080 19 11113706 frameshift variant G/- del 0.700 0
dbSNP: rs1131692211
rs1131692211
LDLR ; MIR6886
3 1.000 0.080 19 11113742 frameshift variant C/- del 0.700 0
dbSNP: rs1131692212
rs1131692212
LDLR ; MIR6886
3 1.000 0.080 19 11113743 inframe deletion TGG/- delins 0.700 0
dbSNP: rs1131692213
rs1131692213
LDLR
3 1.000 0.080 19 11116185 missense variant A/T snv 0.700 0
dbSNP: rs1131692214
rs1131692214
LDLR
3 1.000 0.080 19 11116889 frameshift variant AC/T delins 0.700 0
dbSNP: rs1131692215
rs1131692215
LDLR
3 1.000 0.080 19 11116890 inframe insertion -/TGT delins 0.700 0
dbSNP: rs1131692216
rs1131692216
LDLR
3 1.000 0.080 19 11116897 missense variant C/G;T snv 0.700 0
dbSNP: rs1131692217
rs1131692217
LDLR
3 1.000 0.080 19 11116897 frameshift variant -/A ins 0.700 0
dbSNP: rs1131692219
rs1131692219
LDLR
3 1.000 0.080 19 11120092 frameshift variant GACAAAGTATTTTGGACAGA/- del 0.700 0
dbSNP: rs1131692220
rs1131692220
LDLR
3 1.000 0.080 19 11120426 missense variant C/T snv 0.700 0
dbSNP: rs1131692221
rs1131692221
LDLR
3 1.000 0.080 19 11120443 frameshift variant C/- del 0.700 0
dbSNP: rs1131692222
rs1131692222
LDLR
3 1.000 0.080 19 11123260 inframe insertion -/CCGACC delins 0.700 0
dbSNP: rs1131692223
rs1131692223
LDLR
3 1.000 0.080 19 11123300 frameshift variant C/- delins 0.700 0
dbSNP: rs1131692224
rs1131692224
LDLR
3 1.000 0.080 19 11128018 inframe deletion GTTGCTGGCAGAGGAAATGAGAAGAAGCCC/- delins 0.700 0
dbSNP: rs1131692225
rs1131692225
LDLR
3 1.000 0.080 19 11129513 frameshift variant TCCTCGTCTTCCTTTGC/- delins 0.700 0
dbSNP: rs1131692226
rs1131692226
LDLR
3 1.000 0.080 19 11129545 missense variant C/G snv 0.700 0
dbSNP: rs116405216
rs116405216
LDLR
3 1.000 0.080 19 11110648 splice region variant G/A;C snv 1.9E-03; 4.0E-06 0.700 0
dbSNP: rs121908024
rs121908024
LDLR
4 0.925 0.080 19 11100252 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs121908027
rs121908027
LDLR
5 0.882 0.160 19 11105557 inframe deletion TGG/- delins 0.700 0
dbSNP: rs121908028
rs121908028
LDLR
6 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.700 0
dbSNP: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
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: rs121908031
rs121908031
LDLR
6 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.700 0