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: rs879254753
rs879254753
LDLR
3 0.882 0.080 19 11110723 missense variant T/A;C;G snv 0.700 1.000 20 1994 2016
dbSNP: rs875989906
rs875989906
LDLR
3 0.925 0.080 19 11105567 missense variant G/A;T snv 0.710 1.000 17 1991 2015
dbSNP: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.700 1.000 15 1994 2015
dbSNP: rs139617694
rs139617694
LDLR ; MIR6886
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 1.000 15 1995 2016
dbSNP: rs879254457
rs879254457
LDLR
1 1.000 0.080 19 11102757 missense variant G/A;T snv 0.700 1.000 15 1994 2018
dbSNP: rs267607213
rs267607213
LDLR
6 0.851 0.160 19 11100286 stop gained G/A;T snv 0.700 1.000 14 1992 2016
dbSNP: rs771019366
rs771019366
LDLR
5 0.882 0.080 19 11102742 missense variant A/C;G snv 0.700 1.000 14 1992 2017
dbSNP: rs879255000
rs879255000
LDLR
6 0.851 0.080 19 11116882 missense variant T/C;G snv 0.720 1.000 12 1996 2012
dbSNP: rs773618064
rs773618064
LDLR
4 0.925 0.080 19 11129535 frameshift variant G/-;GG delins 0.700 1.000 11 1998 2016
dbSNP: rs879254597
rs879254597
LDLR
4 0.851 0.120 19 11105528 stop gained G/A;T snv 0.720 1.000 11 1989 2012
dbSNP: rs879254803
rs879254803
LDLR ; MIR6886
2 0.925 0.080 19 11111588 missense variant T/C;G snv 0.700 1.000 10 1973 2015
dbSNP: rs879254867
rs879254867
LDLR ; MIR6886
5 0.882 0.080 19 11113420 stop gained G/A;C;T snv 0.700 1.000 10 1992 2017
dbSNP: rs879255051
rs879255051
LDLR
7 0.827 0.120 19 11120091 splice acceptor variant G/A;C snv 0.700 1.000 10 1992 2010
dbSNP: rs121908027
rs121908027
LDLR
5 0.882 0.160 19 11105557 inframe deletion TGG/- delins 0.700 1.000 9 1990 2012
dbSNP: rs121908035
rs121908035
LDLR
5 0.882 0.160 19 11105599 stop gained C/A;G snv 0.700 1.000 9 1993 2016
dbSNP: rs201637900
rs201637900
LDLR
3 1.000 0.080 19 11120424 missense variant G/A;C snv 0.700 1.000 9 1973 2009
dbSNP: rs793888517
rs793888517
LDLR
5 0.882 0.080 19 11102788 splice donor variant T/A;C snv 0.700 1.000 9 1995 2011
dbSNP: rs875989926
rs875989926
LDLR
3 0.882 0.080 19 11116213 splice donor variant G/A;C;T snv 0.700 1.000 9 1995 2010
dbSNP: rs875989928
rs875989928
LDLR
2 0.925 0.080 19 11116884 stop gained G/A;C;T snv 0.700 1.000 9 1992 2016
dbSNP: rs879254558
rs879254558
LDLR
2 0.925 0.080 19 11105423 missense variant T/C;G snv 0.720 1.000 9 1992 2017
dbSNP: rs879254611
rs879254611
LDLR
2 0.925 0.080 19 11105553 missense variant G/A;T snv 0.700 1.000 9 1994 2012
dbSNP: rs869025453
rs869025453
LDLR ; MIR6886
4 0.925 0.080 19 11113652 frameshift variant CT/- delins 7.0E-06 0.700 1.000 8 1994 2013
dbSNP: rs875989909
rs875989909
LDLR
5 0.882 0.080 19 11107486 missense variant C/G snv 0.700 1.000 8 1989 2016
dbSNP: rs875989911
rs875989911
LDLR
3 0.882 0.080 19 11107512 missense variant G/A snv 7.0E-06 0.700 1.000 8 1994 2009
dbSNP: rs875989916
rs875989916
LDLR ; MIR6886
3 0.882 0.080 19 11111568 frameshift variant -/GTGG delins 0.700 1.000 8 1990 2013