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: rs879254457
rs879254457
LDLR
1 1.000 0.080 19 11102757 missense variant G/A;T snv 0.700 1.000 15 1994 2018
dbSNP: rs879254787
rs879254787
LDLR ; MIR6886
1 1.000 0.080 19 11111543 missense variant T/C snv 4.0E-06 0.700 1.000 14 1973 2017
dbSNP: rs72658865
rs72658865
LDLR
1 1.000 0.080 19 11116969 missense variant G/A;T snv 3.6E-05; 8.0E-05 0.700 1.000 7 1998 2013
dbSNP: rs879254439
rs879254439
LDLR
1 1.000 0.080 19 11102696 missense variant T/A snv 7.0E-06 0.700 1.000 7 1994 2008
dbSNP: rs879254374
rs879254374
LDLR
1 1.000 0.080 19 11089413 upstream gene variant C/G;T snv 0.700 1.000 6 1994 2011
dbSNP: rs879254548
rs879254548
LDLR
1 1.000 0.080 19 11105406 missense variant G/A;C snv 0.700 1.000 6 1994 2009
dbSNP: rs879254552
rs879254552
LDLR
1 1.000 0.080 19 11105416 frameshift variant C/-;CC delins 0.700 1.000 6 1998 2019
dbSNP: rs879254620
rs879254620
LDLR
1 1.000 0.080 19 11105565 protein altering variant -/CTGCAAGGACAAATCTGACGA delins 0.700 1.000 6 1992 2007
dbSNP: rs879254746
rs879254746
LDLR
1 1.000 0.080 19 11110685 missense variant G/A;T snv 0.700 1.000 6 1973 2016
dbSNP: rs879254862
rs879254862
LDLR ; MIR6886
1 1.000 0.080 19 11113413 missense variant T/A;C snv 0.700 1.000 6 1992 2014
dbSNP: rs879254783
rs879254783
LDLR ; MIR6886
1 1.000 0.080 19 11111525 missense variant T/C snv 0.700 1.000 5 1994 2008
dbSNP: rs112954220
rs112954220
LDLR
1 1.000 0.080 19 11120470 stop gained C/A;G;T snv 2.8E-05 0.700 1.000 4 2002 2013
dbSNP: rs377437226
rs377437226
LDLR
1 1.000 0.080 19 11129669 stop gained C/A;T snv 3.6E-05 0.700 1.000 4 1990 2016
dbSNP: rs756613387
rs756613387
LDLR
1 1.000 0.080 19 11105572 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2000 2016
dbSNP: rs875989905
rs875989905
LDLR
1 1.000 0.080 19 11105563 frameshift variant C/- delins 0.700 1.000 4 2001 2007
dbSNP: rs879254801
rs879254801
LDLR ; MIR6886
1 1.000 0.080 19 11111583 missense variant G/A;C;T snv 0.700 1.000 4 1998 2013
dbSNP: rs879254915
rs879254915
LDLR ; MIR6886
1 1.000 0.080 19 11113646 stop gained G/A snv 0.700 1.000 4 1992 2009
dbSNP: rs139400379
rs139400379
LDLR
1 1.000 0.080 19 11102758 stop gained C/A;T snv 4.0E-05 0.700 1.000 3 1998 2015
dbSNP: rs730882099
rs730882099
LDLR ; MIR6886
1 1.000 0.080 19 11113286 missense variant G/A;T snv 1.6E-05 7.0E-06 0.700 1.000 3 2004 2013
dbSNP: rs757252110
rs757252110
LDLR
1 1.000 0.080 19 11107489 stop gained G/A;C snv 4.0E-06 0.700 1.000 3 1995 2005
dbSNP: rs777640882
rs777640882
LDLR
1 1.000 0.080 19 11102740 missense variant C/G;T snv 8.0E-06 0.700 1.000 3 1999 2010
dbSNP: rs875989917
rs875989917
LDLR ; MIR6886
1 1.000 0.080 19 11111611 frameshift variant C/-;CC;CCCCCC delins 0.700 1.000 3 2004 2012
dbSNP: rs875989920
rs875989920
LDLR ; MIR6886
1 1.000 0.080 19 11113544 frameshift variant -/CAGA delins 0.700 1.000 3 1994 2001
dbSNP: rs875989938
rs875989938
LDLR
1 1.000 0.080 19 11120412 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 1998 2015
dbSNP: rs875989941
rs875989941
LDLR
1 1.000 0.080 19 11123325 frameshift variant A/- del 0.700 1.000 3 1992 2005