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: rs879254748
rs879254748
LDLR
1 1.000 0.080 19 11110690 frameshift variant -/A delins 0.700 1.000 2 2005 2011
dbSNP: rs1057519682
rs1057519682
LDLR
2 0.925 0.080 19 11120458 frameshift variant -/A delins 0.010 1.000 1 2010 2010
dbSNP: rs1555802710
rs1555802710
LDLR
1 1.000 0.080 19 11102668 frameshift variant -/A ins 0.700 1.000 1 2013 2013
dbSNP: rs1555803643
rs1555803643
LDLR
1 1.000 0.080 19 11106572 frameshift variant -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs879254410
rs879254410
LDLR
1 1.000 0.080 19 11100266 frameshift variant -/A delins 0.700 1.000 1 2001 2001
dbSNP: rs879254436
rs879254436
LDLR
1 1.000 0.080 19 11102671 frameshift variant -/A delins 0.700 1.000 1 2013 2013
dbSNP: rs879254475
rs879254475
LDLR
1 1.000 0.080 19 11105224 frameshift variant -/A delins 0.700 1.000 1 1999 1999
dbSNP: rs879254581
rs879254581
LDLR
1 1.000 0.080 19 11105487 frameshift variant -/A ins 0.700 1.000 1 2010 2010
dbSNP: rs879254593
rs879254593
LDLR
3 1.000 0.080 19 11105520 frameshift variant -/A delins 0.700 1.000 1 2013 2013
dbSNP: rs879254762
rs879254762
LDLR
1 1.000 0.080 19 11110744 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs879254763
rs879254763
LDLR
1 1.000 0.080 19 11110753 frameshift variant -/A ins 0.700 1.000 1 2001 2001
dbSNP: rs879254916
rs879254916
LDLR ; MIR6886
1 1.000 0.080 19 11113646 frameshift variant -/A delins 0.700 1.000 1 2010 2010
dbSNP: rs879254933
rs879254933
LDLR ; MIR6886
4 0.882 0.160 19 11113708 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs879255028
rs879255028
LDLR
1 1.000 0.080 19 11116954 frameshift variant -/A delins 0.700 1.000 1 1999 1999
dbSNP: rs879255053
rs879255053
LDLR
1 1.000 0.080 19 11120101 frameshift variant -/A ins 0.700 1.000 1 2005 2005
dbSNP: rs879255076
rs879255076
LDLR
4 0.925 0.080 19 11120176 frameshift variant -/A delins 0.700 1.000 1 2010 2010
dbSNP: rs879255077
rs879255077
LDLR
1 1.000 0.080 19 11120181 frameshift variant -/A ins 0.700 1.000 1 2008 2008
dbSNP: rs879255117
rs879255117
LDLR
1 1.000 0.080 19 11120417 stop gained -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs1131692217
rs1131692217
LDLR
3 1.000 0.080 19 11116897 frameshift variant -/A ins 0.700 0
dbSNP: rs1135402779
rs1135402779
LDLR
1 1.000 0.080 19 11120131 frameshift variant -/A ins 0.700 0
dbSNP: rs1555803912
rs1555803912
LDLR
1 1.000 0.080 19 11107501 frameshift variant -/A delins 0.700 0
dbSNP: rs1555804545
rs1555804545
LDLR
1 1.000 0.080 19 11110756 frameshift variant -/A delins 0.700 0
dbSNP: rs1555807206
rs1555807206
LDLR
1 1.000 0.080 19 11120112 stop gained -/A delins 0.700 0
dbSNP: rs1555803425
rs1555803425
LDLR
2 0.925 0.080 19 11105575 inframe insertion -/AAATCTGAC delins 0.700 1.000 2 2004 2010
dbSNP: rs879254537
rs879254537
LDLR
1 1.000 0.080 19 11105370 frameshift variant -/AACAGCTCCACCTGCATCC delins 0.700 1.000 1 1995 1995