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: rs1057516674
rs1057516674
G6PC
5 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
dbSNP: rs1060499921
rs1060499921
LDLR ; MIR6886
3 0.925 0.120 19 11111630 missense variant A/C snv 0.700 0
dbSNP: rs1060499923
rs1060499923
LDLR ; MIR6886
3 0.925 0.120 19 11113295 frameshift variant TT/- del 0.700 0
dbSNP: rs11547917
rs11547917
LDLR
7 0.807 0.200 19 11107491 stop gained C/A;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: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
dbSNP: rs139043155
rs139043155
LDLR
10 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs1555805127
rs1555805127
LDLR ; MIR6886
3 0.925 0.120 19 11113262 coding sequence variant -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC delins 0.700 0
dbSNP: rs193922567
rs193922567
LDLR ; MIR6886
7 0.807 0.120 19 11113451 splice donor variant T/A;C snv 0.700 0
dbSNP: rs200727689
rs200727689
LDLR
5 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs28942080
rs28942080
LDLR ; MIR6886
8 0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs570942190
rs570942190
LDLR ; MIR6886
7 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs730882094
rs730882094
LDLR
6 0.827 0.120 19 11110658 missense variant A/C;G snv 1.6E-05 0.700 0
dbSNP: rs730882102
rs730882102
LDLR ; MIR6886
6 0.827 0.120 19 11113590 missense variant G/A;T snv 5.6E-05 2.1E-05 0.700 0
dbSNP: rs750518671
rs750518671
LDLR
9 0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs752935814
rs752935814
LDLR
5 0.882 0.120 19 11120380 stop gained G/A;C snv 0.700 0
dbSNP: rs769370816
rs769370816
LDLR
5 0.882 0.120 19 11116125 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs875989891
rs875989891
LDLR
4 0.882 0.120 19 11102719 stop gained C/A snv 0.700 0
dbSNP: rs879254538
rs879254538
LDLR
5 0.851 0.200 19 11105378 frameshift variant T/- del 0.700 0
dbSNP: rs879254563
rs879254563
LDLR
4 0.882 0.120 19 11105433 missense variant G/T snv 0.700 0
dbSNP: rs879254592
rs879254592
LDLR
6 0.827 0.120 19 11105517 missense variant G/A;C;T snv 0.700 0
dbSNP: rs879254712
rs879254712
LDLR
6 0.827 0.200 19 11107470 frameshift variant C/- del 0.700 0
dbSNP: rs879254719
rs879254719
LDLR
4 0.882 0.120 19 11107493 missense variant G/A;C;T snv 0.700 0
dbSNP: rs879254838
rs879254838
LDLR ; MIR6886
7 0.827 0.120 19 11113314 missense variant A/C;T snv 0.700 0