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: rs1057519649
rs1057519649
LDLR
1 1.000 0.080 19 11089422 upstream gene variant -/A delins 0.700 0
dbSNP: rs1057519682
rs1057519682
LDLR
2 0.925 0.080 19 11120458 frameshift variant -/A delins 0.700 0
dbSNP: rs879254933
rs879254933
LDLR ; MIR6886
4 0.882 0.160 19 11113708 frameshift variant -/A delins 0.700 0
dbSNP: rs879255076
rs879255076
LDLR
4 0.925 0.080 19 11120176 frameshift variant -/A delins 0.700 0
dbSNP: rs1555803425
rs1555803425
LDLR
2 0.925 0.080 19 11105575 inframe insertion -/AAATCTGAC delins 0.700 0
dbSNP: rs879254892
rs879254892
LDLR ; MIR6886
2 0.925 0.080 19 11113590 frameshift variant -/ACAT delins 0.700 0
dbSNP: rs879254487
rs879254487
LDLR
4 0.925 0.080 19 11105255 frameshift variant -/ACGATGGGAAGTGCATCTCTCGG delins 0.700 0
dbSNP: rs387906302
rs387906302
LDLR
4 0.925 0.080 19 11129568 frameshift variant -/AGAA delins 0.700 0
dbSNP: rs879254435
rs879254435
LDLR
2 0.925 0.080 19 11102667 frameshift variant -/AT;T delins 0.700 0
dbSNP: rs879254768
rs879254768
LDLR
4 0.882 0.080 19 11110757 splice donor variant -/ATGCGAAG delins 0.700 0
dbSNP: rs1057516133
rs1057516133
LDLR
1 1.000 0.080 19 11105275 frameshift variant -/C delins 0.700 0
dbSNP: rs1057519685
rs1057519685
LDLR
1 1.000 0.080 19 11120514 frameshift variant -/C delins 0.700 0
dbSNP: rs879254530
rs879254530
LDLR
4 0.925 0.080 19 11105353 frameshift variant -/C delins 0.700 0
dbSNP: rs879254994
rs879254994
LDLR
2 0.925 0.080 19 11116214 splice region variant -/C ins 0.700 0
dbSNP: rs1057519662
rs1057519662
LDLR
1 1.000 0.080 19 11105570 frameshift variant -/CAAGGACAAATCTGACG delins 0.700 0
dbSNP: rs1057519657
rs1057519657
LDLR
1 1.000 0.080 19 11105564 frameshift variant -/CGACTGC delins 0.700 0
dbSNP: rs879254629
rs879254629
LDLR
2 0.925 0.080 19 11105574 frameshift variant -/G delins 0.010 1.000 1 2000 2000
dbSNP: rs1057519666
rs1057519666
LDLR
1 1.000 0.080 19 11107513 splice donor variant -/G delins 0.700 0
dbSNP: rs879254466
rs879254466
LDLR
4 0.925 0.080 19 11102786 splice donor variant -/G delins 0.700 0
dbSNP: rs879255207
rs879255207
LDLR
2 0.925 0.080 19 11129540 frameshift variant -/G;GG ins 0.700 0
dbSNP: rs1555808111
rs1555808111
LDLR
3 0.925 0.160 19 11123284 frameshift variant -/GCTG delins 0.700 0
dbSNP: rs879254977
rs879254977
LDLR
6 0.827 0.120 19 11116168 stop gained -/GCTGGTGA delins 0.700 0
dbSNP: rs1555805127
rs1555805127
LDLR ; MIR6886
3 0.925 0.120 19 11113262 coding sequence variant -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC delins 0.700 0
dbSNP: rs879254799
rs879254799
LDLR ; MIR6886
2 0.925 0.080 19 11111571 frameshift variant -/GGCT delins 0.700 0
dbSNP: rs875989916
rs875989916
LDLR ; MIR6886
3 0.882 0.080 19 11111568 frameshift variant -/GTGG delins 0.700 0