Source: BEFREE ×
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: rs28942111
rs28942111
PCSK9
5 0.807 0.120 1 55044016 missense variant T/A snv 0.020 1.000 2 2007 2007
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs11591147
rs11591147
PCSK9
23 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs1191233669
rs1191233669
LDLR ; MIR6886
1 1.000 0.040 19 11111581 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121908043
rs121908043
LDLR ; MIR6886
1 0.882 0.080 19 11113307 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs121913348
rs121913348
BRAF
5 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2009 2009
dbSNP: rs137852912
rs137852912
PCSK9
9 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs1386840203
rs1386840203
APOB
1 1.000 0.040 2 21038024 missense variant C/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1410483989
rs1410483989
IQGAP1
2 0.925 0.120 15 90433737 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs143117125
rs143117125
PCSK9
1 1.000 0.040 1 55046594 missense variant C/A snv 6.0E-05 6.3E-05 0.010 1.000 1 2006 2006
dbSNP: rs148195424
rs148195424
PCSK9
1 1.000 0.040 1 55052701 missense variant C/T snv 7.2E-04 6.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs28362286
rs28362286
PCSK9
4 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.010 1.000 1 2008 2008
dbSNP: rs28942109
rs28942109
SAR1B
2 0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs28942112
rs28942112
PCSK9
2 0.925 0.040 1 55052400 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs35605815
rs35605815
PCSK9
2 0.925 0.040 1 55052407 frameshift variant -/T ins 0.010 1.000 1 2007 2007
dbSNP: rs67608943
rs67608943
PCSK9
5 0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs970575319
rs970575319
PCSK9
2 0.882 0.040 1 55052408 missense variant A/T snv 0.010 1.000 1 2007 2007