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: rs761954844
rs761954844
LDLR
4 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.710 1.000 7 1998 2012
dbSNP: rs773658037
rs773658037
LDLR ; MIR6886
4 0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05 0.710 1.000 7 1998 2018
dbSNP: rs879254630
rs879254630
LDLR
2 0.925 0.080 19 11105577 missense variant A/C;G;T snv 0.710 1.000 7 1992 2007
dbSNP: rs771917370
rs771917370
LDLR
2 0.925 0.080 19 11105537 missense variant C/G;T snv 1.2E-05 0.710 1.000 6 1975 2016
dbSNP: rs776421777
rs776421777
LDLR
5 0.882 0.160 19 11100246 stop gained G/A;T snv 2.4E-05 0.710 1.000 5 1996 2014
dbSNP: rs879254668
rs879254668
LDLR
2 0.925 0.080 19 11106633 missense variant T/A;C;G snv 4.0E-06 0.710 1.000 5 2000 2011
dbSNP: rs747507019
rs747507019
LDLR
3 0.882 0.080 19 11110690 missense variant C/T snv 6.0E-05 0.710 1.000 4 1997 2009
dbSNP: rs756039188
rs756039188
LDLR
4 0.925 0.080 19 11089560 stop gained G/A snv 4.0E-06 0.710 1.000 4 1992 2010
dbSNP: rs879254456
rs879254456
LDLR
2 0.925 0.080 19 11102756 missense variant T/A;C;G snv 0.710 1.000 4 1998 2005
dbSNP: rs879254739
rs879254739
LDLR
3 0.925 0.080 19 11110664 missense variant G/A;T snv 0.710 1.000 4 1992 2013
dbSNP: rs879254769
rs879254769
LDLR
2 0.925 0.080 19 11110765 missense variant T/A;C snv 0.710 1.000 4 2006 2011
dbSNP: rs121908038
rs121908038
LDLR ; MIR6886
3 0.882 0.080 19 11113293 missense variant T/A snv 0.710 1.000 3 1995 2005
dbSNP: rs138947766
rs138947766
LDLR
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.710 1.000 3 1996 2001
dbSNP: rs879254505
rs879254505
LDLR
4 0.925 0.080 19 11105288 missense variant T/C snv 0.710 1.000 3 2001 2010
dbSNP: rs879254518
rs879254518
LDLR
4 0.925 0.080 19 11105322 missense variant A/G;T snv 0.710 1.000 3 2010 2018
dbSNP: rs879254589
rs879254589
LDLR
1 1.000 0.080 19 11105507 missense variant G/A snv 0.710 1.000 3 1998 2011
dbSNP: rs879254678
rs879254678
LDLR
2 0.925 0.080 19 11106667 missense variant A/G;T snv 0.710 1.000 3 2002 2018
dbSNP: rs879254693
rs879254693
LDLR
7 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.710 1.000 3 2001 2005
dbSNP: rs879254839
rs879254839
LDLR ; MIR6886
3 0.882 0.080 19 11113321 missense variant G/A;C;T snv 0.710 1.000 3 2011 2017
dbSNP: rs879254857
rs879254857
LDLR ; MIR6886
2 0.925 0.080 19 11113393 frameshift variant G/- delins 0.710 1.000 3 2000 2005
dbSNP: rs879255144
rs879255144
LDLR
2 0.925 0.080 19 11120513 missense variant T/A;G snv 0.710 1.000 3 2001 2004
dbSNP: rs397509365
rs397509365
LDLR
5 0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06 0.710 1.000 2 2000 2005
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 2 1996 2005
dbSNP: rs753248521
rs753248521
LDLR ; MIR6886
4 0.882 0.120 19 11111523 missense variant A/G snv 4.0E-06 0.710 1.000 2 1998 2005
dbSNP: rs755757866
rs755757866
LDLR
3 0.925 0.080 19 11110730 missense variant G/A;T snv 8.0E-06 0.710 1.000 2 1994 2004