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: rs1057516127
rs1057516127
LDLR
4 0.925 0.080 19 11123200 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs1057519661
rs1057519661
LDLR
5 0.882 0.080 19 11105587 frameshift variant C/- del 0.700 0
dbSNP: rs1057519669
rs1057519669
LDLR ; MIR6886
4 0.925 0.080 19 11113347 missense variant A/G snv 0.700 0
dbSNP: rs1057519670
rs1057519670
LDLR ; MIR6886
4 0.925 0.080 19 11113406 missense variant A/T snv 0.700 0
dbSNP: rs1057519673
rs1057519673
LDLR ; MIR6886
4 0.925 0.080 19 11113705 frameshift variant C/- del 0.700 0
dbSNP: rs1057519677
rs1057519677
LDLR
4 0.925 0.080 19 11120099 missense variant T/G snv 0.700 0
dbSNP: rs1060500986
rs1060500986
LDLR ; MIR6886
3 1.000 0.080 19 11111628 missense variant G/A snv 0.700 0
dbSNP: rs112029328
rs112029328
LDLR
5 0.882 0.080 19 11102787 splice donor variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1131692189
rs1131692189
LDLR
3 1.000 0.080 19 11100271 missense variant G/T snv 0.700 0
dbSNP: rs1131692190
rs1131692190
LDLR
3 1.000 0.080 19 11100350 splice region variant G/A snv 0.700 0
dbSNP: rs1131692191
rs1131692191
LDLR
3 1.000 0.080 19 11102724 frameshift variant -/CATTCTG ins 0.700 0
dbSNP: rs1131692192
rs1131692192
LDLR
3 1.000 0.080 19 11105223 frameshift variant CAAGACGTGCTCCCAGGAC/- delins 0.700 0
dbSNP: rs1131692193
rs1131692193
LDLR
3 1.000 0.080 19 11105424 stop gained CGAAGATGGCTCGG/- delins 0.700 0
dbSNP: rs1131692194
rs1131692194
LDLR
3 1.000 0.080 19 11105434 synonymous variant C/T snv 0.700 0
dbSNP: rs1131692195
rs1131692195
LDLR
3 1.000 0.080 19 11105471 frameshift variant GTGT/TG delins 0.700 0
dbSNP: rs1131692196
rs1131692196
LDLR
3 1.000 0.080 19 11105519 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1131692197
rs1131692197
LDLR
3 1.000 0.080 19 11105572 stop gained CAAGGACAAATCTGACGAGGAAA/- del 0.700 0
dbSNP: rs1131692198
rs1131692198
LDLR
3 1.000 0.080 19 11105575 protein altering variant GGACAAATCTGACGA/AACTGCGGTAAACTGCGGTAAACT delins 0.700 0
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