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: rs774069731
rs774069731
LDLR
1 1.000 0.080 19 11110773 splice donor variant T/G snv 1.2E-05 0.700 0
dbSNP: rs774615547
rs774615547
LDLR
1 1.000 0.080 19 11089562 frameshift variant -/TTCCT delins 4.0E-06 0.700 0
dbSNP: rs777326720
rs777326720
LDLR
1 1.000 0.080 19 11105426 stop gained G/A;T snv 2.0E-05; 8.0E-06 0.700 0
dbSNP: rs879254585
rs879254585
LDLR
1 1.000 0.080 19 11105504 missense variant T/A;C snv 0.700 0
dbSNP: rs879254618
rs879254618
LDLR
1 1.000 0.080 19 11105578 frameshift variant -/TGCAA delins 4.0E-06 0.700 0
dbSNP: rs879254808
rs879254808
LDLR ; MIR6886
1 1.000 0.080 19 11111606 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs879254853
rs879254853
LDLR ; MIR6886
1 1.000 0.080 19 11113379 missense variant G/C snv 0.700 0
dbSNP: rs879254895
rs879254895
LDLR ; MIR6886
1 1.000 0.080 19 11113594 missense variant T/A;G snv 0.700 0
dbSNP: rs879254912
rs879254912
LDLR ; MIR6886
1 1.000 0.080 19 11113636 missense variant A/G snv 0.700 0
dbSNP: rs879255075
rs879255075
LDLR
1 1.000 0.080 19 11120174 missense variant C/T snv 0.700 0
dbSNP: rs879255137
rs879255137
LDLR
1 1.000 0.080 19 11120476 missense variant C/G snv 0.700 0
dbSNP: rs746982741
rs746982741
LDLR ; MIR6886
2 0.925 0.080 19 11111550 missense variant A/C;G snv 2.4E-05 0.710 1.000 32 1989 2017
dbSNP: rs758194385
rs758194385
LDLR
2 0.925 0.080 19 11116198 missense variant A/G snv 2.8E-05 7.0E-06 0.800 1.000 32 1989 2017
dbSNP: rs879254456
rs879254456
LDLR
2 0.925 0.080 19 11102756 missense variant T/A;C;G snv 0.710 1.000 32 1989 2017
dbSNP: rs879254630
rs879254630
LDLR
2 0.925 0.080 19 11105577 missense variant A/C;G;T snv 0.710 1.000 32 1989 2017
dbSNP: rs879254769
rs879254769
LDLR
2 0.925 0.080 19 11110765 missense variant T/A;C snv 0.710 1.000 32 1989 2017
dbSNP: rs879254849
rs879254849
LDLR ; MIR6886
2 0.925 0.080 19 11113359 missense variant T/C snv 0.810 1.000 32 1989 2017
dbSNP: rs121908036
rs121908036
LDLR ; MIR6886
2 0.925 0.080 19 11113388 missense variant G/C;T snv 0.800 1.000 31 1989 2017
dbSNP: rs121908041
rs121908041
LDLR
2 0.925 0.080 19 11100292 missense variant G/A;C snv 0.800 1.000 31 1989 2017
dbSNP: rs185098634
rs185098634
LDLR
2 0.925 0.080 19 11116873 missense variant C/T snv 3.2E-05 2.1E-05 0.700 1.000 31 1989 2017
dbSNP: rs28942085
rs28942085
LDLR
2 0.925 0.080 19 11129606 missense variant A/C;G snv 0.800 1.000 31 1989 2017
dbSNP: rs370860696
rs370860696
LDLR
2 0.925 0.080 19 11102705 missense variant C/T snv 2.8E-05 3.5E-05 0.700 1.000 31 1989 2017
dbSNP: rs730882086
rs730882086
LDLR
2 0.925 0.080 19 11105571 missense variant G/A;T snv 4.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs879254482
rs879254482
LDLR
2 0.925 0.080 19 11105252 missense variant T/C snv 0.700 1.000 31 1989 2017
dbSNP: rs879254514
rs879254514
LDLR
2 0.925 0.080 19 11105307 missense variant G/A;T snv 0.700 1.000 31 1989 2017