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: rs1057519664
rs1057519664
LDLR
1 1.000 0.080 19 11107498 missense variant A/T snv 0.700 0
dbSNP: rs1057519666
rs1057519666
LDLR
1 1.000 0.080 19 11107513 splice donor variant -/G delins 0.700 0
dbSNP: rs1057519668
rs1057519668
LDLR ; MIR6886
1 1.000 0.080 19 11113296 missense variant T/C snv 0.700 0
dbSNP: rs1057519671
rs1057519671
LDLR ; MIR6886
1 1.000 0.080 19 11113421 frameshift variant T/- del 0.700 0
dbSNP: rs1057519672
rs1057519672
LDLR ; MIR6886
1 1.000 0.080 19 11113654 frameshift variant C/- del 0.700 0
dbSNP: rs1057519674
rs1057519674
LDLR ; MIR6886
1 1.000 0.080 19 11113746 frameshift variant TG/- delins 0.700 0
dbSNP: rs1057519675
rs1057519675
LDLR
1 1.000 0.080 19 11116891 missense variant T/C snv 0.700 0
dbSNP: rs1057519676
rs1057519676
LDLR
1 1.000 0.080 19 11116926 frameshift variant CG/T delins 0.700 0
dbSNP: rs1057519679
rs1057519679
LDLR
1 1.000 0.080 19 11120223 frameshift variant GCCA/- delins 0.700 0
dbSNP: rs1057519680
rs1057519680
LDLR
1 1.000 0.080 19 11120228 missense variant C/T snv 0.700 0
dbSNP: rs1057519683
rs1057519683
LDLR
1 1.000 0.080 19 11120466 frameshift variant C/- delins 0.700 0
dbSNP: rs1057519684
rs1057519684
LDLR
1 1.000 0.080 19 11120507 missense variant A/G snv 0.700 0
dbSNP: rs1057519685
rs1057519685
LDLR
1 1.000 0.080 19 11120514 frameshift variant -/C delins 0.700 0
dbSNP: rs1057519687
rs1057519687
LDLR
1 1.000 0.080 19 11123326 frameshift variant GACAATGT/- delins 0.700 0
dbSNP: rs1057519690
rs1057519690
LDLR
1 1.000 0.080 19 11129604 frameshift variant -/T delins 0.700 0
dbSNP: rs12710260
rs12710260
LDLR
1 1.000 0.080 19 11110781 intron variant G/A;C snv 1.2E-05; 0.40 0.700 0
dbSNP: rs1555803257
rs1555803257
LDLR
1 1.000 0.080 19 11105347 inframe deletion TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC/- delins 0.700 0
dbSNP: rs1555803481
rs1555803481
LDLR
1 1.000 0.080 19 11105589 frameshift variant A/- del 0.700 0
dbSNP: rs1555803632
rs1555803632
LDLR
1 1.000 0.080 19 11106439 splice donor variant CCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATT/- delins 0.700 0
dbSNP: rs1555806088
rs1555806088
LDLR
1 1.000 0.080 19 11116200 frameshift variant GGCA/- del 0.700 0
dbSNP: rs540073140
rs540073140
LDLR
1 1.000 0.080 19 11110780 intron variant C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs72658858
rs72658858
LDLR
1 1.000 0.080 19 11107514 missense variant G/A;T snv 4.8E-05; 8.0E-06 0.700 0
dbSNP: rs730882091
rs730882091
LDLR
1 1.000 0.080 19 11107427 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs730882108
rs730882108
LDLR ; MIR6886
1 1.000 0.080 19 11113761 missense variant G/C snv 1.6E-05 0.700 0
dbSNP: rs774016801
rs774016801
LDLR
1 1.000 0.080 19 11102664 stop gained T/A;C snv 4.0E-06 0.700 0