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: rs121908033
rs121908033
LDLR
5 0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs121908035
rs121908035
LDLR
5 0.882 0.160 19 11105599 stop gained C/A;G snv 0.700 0
dbSNP: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.700 0
dbSNP: rs121908042
rs121908042
LDLR
4 0.925 0.080 19 11105232 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs121908043
rs121908043
LDLR ; MIR6886
5 0.882 0.080 19 11113307 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs121908044
rs121908044
LDLR
4 0.925 0.080 19 11105527 synonymous variant C/G;T snv 0.700 0
dbSNP: rs13306512
rs13306512
LDLR
5 0.882 0.120 19 11107513 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs137853964
rs137853964
LDLR
4 0.925 0.080 19 11129602 missense variant G/A;T snv 1.0E-03 0.700 0
dbSNP: rs137943601
rs137943601
LDLR ; MIR6886
6 0.851 0.120 19 11113313 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs138947766
rs138947766
LDLR
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs139617694
rs139617694
LDLR ; MIR6886
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs139624145
rs139624145
LDLR ; MIR6886
4 0.925 0.080 19 11113620 missense variant G/A;C;T snv 4.0E-05 0.700 0
dbSNP: rs140241383
rs140241383
LDLR
4 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.700 0
dbSNP: rs140807148
rs140807148
LDLR
4 0.925 0.080 19 11105231 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs143872778
rs143872778
LDLR
3 1.000 0.080 19 11116989 synonymous variant C/A;T snv 1.6E-05; 1.8E-04 0.700 0
dbSNP: rs143992984
rs143992984
LDLR
3 1.000 0.080 19 11106676 missense variant G/A;T snv 2.4E-04 0.700 0
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs148698650
rs148698650
LDLR
4 0.925 0.080 19 11107403 stop gained G/A;T snv 5.4E-04 0.700 0
dbSNP: rs1555800611
rs1555800611
LDLR
3 1.000 0.080 19 11089319 upstream gene variant GGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCC/- delins 0.700 0
dbSNP: rs1555802312
rs1555802312
LDLR
3 1.000 0.080 19 11100331 frameshift variant C/- delins 0.700 0
dbSNP: rs1555803259
rs1555803259
LDLR
3 1.000 0.080 19 11105348 frameshift variant TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC/A delins 0.700 0
dbSNP: rs1555806546
rs1555806546
LDLR
3 1.000 0.080 19 11116978 protein altering variant -/CCTTGGCCGTCT delins 0.700 0
dbSNP: rs1555807275
rs1555807275
LDLR
3 1.000 0.080 19 11120192 frameshift variant -/GAGGA delins 0.700 0
dbSNP: rs199774121
rs199774121
LDLR
4 0.925 0.080 19 11105335 stop gained C/A snv 8.0E-06 0.700 0
dbSNP: rs200238879
rs200238879
LDLR
4 0.925 0.080 19 11105602 splice donor variant T/C snv 0.700 0