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: rs970575319
rs970575319
PCSK9
3 0.882 0.040 1 55052408 missense variant A/T snv 0.010 1.000 1 2007 2007
dbSNP: rs879255203
rs879255203
LDLR
1 1.000 0.040 19 11129534 missense variant T/C snv 2.4E-05 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs879255145
rs879255145
LDLR
4 0.882 0.080 19 11120514 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs879254906
rs879254906
LDLR ; MIR6886
3 0.882 0.080 19 11113630 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs879254900
rs879254900
LDLR ; MIR6886
5 0.882 0.080 19 11113612 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs879254896
rs879254896
LDLR ; MIR6886
2 0.925 0.080 19 11113599 frameshift variant GC/A delins 0.010 1.000 1 1998 1998
dbSNP: rs879254894
rs879254894
LDLR ; MIR6886
1 1.000 0.040 19 11113593 missense variant A/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs879254597
rs879254597
LDLR
4 0.851 0.120 19 11105528 stop gained G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs879254509
rs879254509
LDLR
3 0.882 0.080 19 11105295 stop gained C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs879254449
rs879254449
LDLR
3 0.882 0.080 19 11102723 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs794728683
rs794728683
PCSK9
3 0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs777249279
rs777249279
APOB
2 0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs776478288
rs776478288
PLA2G7
2 0.925 0.080 6 46716518 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs774006043
rs774006043
ZPR1 ; APOA5
3 0.925 0.080 11 116790561 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs770937716
rs770937716
LDLR
1 1.000 0.040 19 11107405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs768925824
rs768925824
LDLR
4 0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2004 2004
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011
dbSNP: rs761675397
rs761675397
ABCG2
1 1.000 0.040 4 88114965 missense variant T/C snv 2.8E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs7566605
rs7566605
LOC107985940
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs752849346
rs752849346
LDLRAP1
3 0.882 0.080 1 25554000 missense variant C/T snv 3.2E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs749780672
rs749780672
LDLR ; MIR6886
2 0.925 0.080 19 11113426 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs747507019
rs747507019
LDLR
3 0.882 0.080 19 11110690 missense variant C/T snv 6.0E-05 0.010 1.000 1 2009 2009