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: rs1131692200
rs1131692200
LDLR
3 1.000 0.080 19 11106675 missense variant G/A snv 0.700 0
dbSNP: rs1131692201
rs1131692201
LDLR
3 1.000 0.080 19 11107433 frameshift variant G/- delins 0.700 0
dbSNP: rs1131692202
rs1131692202
LDLR
3 1.000 0.080 19 11107456 frameshift variant AG/- del 0.700 0
dbSNP: rs1131692203
rs1131692203
LDLR ; MIR6886
3 1.000 0.080 19 11111534 missense variant C/T snv 0.700 0
dbSNP: rs1131692204
rs1131692204
LDLR ; MIR6886
3 1.000 0.080 19 11111567 stop gained G/T snv 0.700 0
dbSNP: rs1131692205
rs1131692205
LDLR ; MIR6886
3 1.000 0.080 19 11111583 frameshift variant G/- del 0.700 0
dbSNP: rs1131692206
rs1131692206
LDLR ; MIR6886
3 1.000 0.080 19 11113510 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs1131692207
rs1131692207
LDLR ; MIR6886
3 1.000 0.080 19 11113588 missense variant G/A snv 0.700 0
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