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: rs11547917
rs11547917
LDLR
7 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0
dbSNP: rs121908026
rs121908026
LDLR
6 0.851 0.160 19 11105436 missense variant C/T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs121908027
rs121908027
LDLR
5 0.882 0.160 19 11105557 inframe deletion TGG/- delins 0.700 0
dbSNP: rs121908031
rs121908031
LDLR
6 0.851 0.160 19 11120425 stop gained C/A;G 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: 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: rs146651743
rs146651743
LDLR
5 0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs1555808111
rs1555808111
LDLR
3 0.925 0.160 19 11123284 frameshift variant -/GCTG delins 0.700 0
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs267607213
rs267607213
LDLR
6 0.851 0.160 19 11100286 stop gained G/A;T snv 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: rs369943481
rs369943481
LDLR
4 0.882 0.160 19 11120454 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs373646964
rs373646964
LDLR ; MIR6886
5 0.882 0.160 19 11113650 missense variant G/A;C snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs373822756
rs373822756
LDLR
8 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-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: rs730882090
rs730882090
LDLR
5 0.882 0.160 19 11107420 missense variant C/A snv 4.0E-06 7.0E-06 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: rs755449669
rs755449669
LDLR ; MIR6886
5 0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs767767730
rs767767730
LDLR ; MIR6886
4 0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs773658037
rs773658037
LDLR ; MIR6886
4 0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs797045014
rs797045014
NOTCH3
4 0.851 0.160 19 15192182 missense variant G/A;T snv 0.700 0
dbSNP: rs875989898
rs875989898
LDLR
5 0.851 0.200 19 11105220 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs879254383
rs879254383
LDLR
4 0.882 0.160 19 11089551 start lost G/A;T snv 0.700 0