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: rs1185124983
rs1185124983
EGF
1 1.000 0.080 4 109960879 missense variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs267607213
rs267607213
LDLR
6 0.851 0.160 19 11100286 stop gained G/A;T snv 0.700 1.000 4 1992 2015
dbSNP: rs730882078
rs730882078
LDLR
4 0.882 0.080 19 11102714 missense variant C/A;T snv 8.0E-06 0.700 1.000 8 1998 2013
dbSNP: rs121908025
rs121908025
LDLR
6 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.710 1.000 9 1990 2014
dbSNP: rs771019366
rs771019366
LDLR
5 0.882 0.080 19 11102742 missense variant A/C;G snv 0.700 1.000 5 1992 2017
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 1.000 10 1992 2015
dbSNP: rs112029328
rs112029328
LDLR
5 0.882 0.080 19 11102787 splice donor variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 7 1994 2012
dbSNP: rs793888517
rs793888517
LDLR
5 0.882 0.080 19 11102788 splice donor variant T/A;C snv 0.700 1.000 9 1995 2016
dbSNP: rs875989899
rs875989899
LDLR
2 0.925 0.080 19 11105279 stop gained C/A;T snv 0.700 1.000 4 1999 2015
dbSNP: rs875989900
rs875989900
LDLR
2 0.925 0.080 19 11105306 missense variant T/C;G snv 4.0E-06 0.700 1.000 5 2000 2017
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 1.000 7 1995 2016
dbSNP: rs200727689
rs200727689
LDLR
5 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 12 1997 2017
dbSNP: rs121908026
rs121908026
LDLR
6 0.851 0.160 19 11105436 missense variant C/T snv 1.6E-05 3.5E-05 0.700 1.000 9 1989 2016
dbSNP: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.700 1.000 7 1998 2016
dbSNP: rs730882085
rs730882085
LDLR
3 0.882 0.080 19 11105495 missense variant T/C;G snv 4.0E-06 0.700 1.000 3 2010 2018
dbSNP: rs376459828
rs376459828
LDLR
5 0.882 0.080 19 11105496 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 1992 2017
dbSNP: rs373822756
rs373822756
LDLR
8 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.700 1.000 5 1992 2015
dbSNP: rs387906305
rs387906305
LDLR
3 0.882 0.080 19 11105586 frameshift variant AC/- del 4.0E-06 0.700 1.000 5 1993 2016
dbSNP: rs121908028
rs121908028
LDLR
6 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.700 1.000 10 1988 2016
dbSNP: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 1.000 15 1990 2016
dbSNP: rs768563000
rs768563000
LDLR
4 0.925 0.080 19 11106588 stop gained G/A;T snv 2.8E-05 0.700 1.000 8 1992 2016
dbSNP: rs879254667
rs879254667
LDLR
5 0.882 0.080 19 11106631 missense variant A/C snv 0.700 1.000 10 2000 2013
dbSNP: rs121908040
rs121908040
LDLR
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 1.000 5 1998 2015
dbSNP: rs139043155
rs139043155
LDLR
10 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 1.000 14 1992 2016
dbSNP: rs751122998
rs751122998
LDLR
3 0.882 0.080 19 11107394 frameshift variant A/- del 4.0E-06 7.0E-06 0.700 1.000 1 2008 2008