Gene: PCSK9 ×
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: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.740 1.000 4 2005 2018
dbSNP: rs564427867
rs564427867
PCSK9
6 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.720 1.000 2 2010 2014
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.710 1.000 1 2017 2017
dbSNP: rs1057519691
rs1057519691
PCSK9
2 0.925 0.080 1 55043958 missense variant T/C;G snv 0.700 1.000 4 2012 2017
dbSNP: rs185392267
rs185392267
PCSK9
1 1.000 0.080 1 55043921 missense variant C/T snv 2.0E-05 3.5E-05 0.700 1.000 1 2015 2015
dbSNP: rs793888521
rs793888521
PCSK9
1 1.000 0.080 1 55052364 missense variant G/A snv 2.0E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs11583680
rs11583680
PCSK9
3 0.882 0.200 1 55039995 missense variant C/G;T snv 1.6E-05; 0.11 0.700 0
dbSNP: rs1254346075
rs1254346075
PCSK9
1 1.000 0.080 1 55057508 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1372204035
rs1372204035
PCSK9
1 1.000 0.080 1 55039977 missense variant C/G snv 0.700 0
dbSNP: rs139669564
rs139669564
PCSK9
1 1.000 0.080 1 55058631 missense variant G/A snv 2.5E-04 9.1E-05 0.700 0
dbSNP: rs141502002
rs141502002
PCSK9
3 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.700 0
dbSNP: rs1553135400
rs1553135400
PCSK9
1 1.000 0.080 1 55039913 missense variant G/A snv 0.700 0
dbSNP: rs1553135406
rs1553135406
PCSK9
1 1.000 0.080 1 55039920 frameshift variant C/- delins 0.700 0
dbSNP: rs1553135930
rs1553135930
PCSK9
1 1.000 0.080 1 55043883 missense variant A/C snv 0.700 0
dbSNP: rs1553135971
rs1553135971
PCSK9
3 0.882 0.080 1 55044021 missense variant A/G snv 0.700 0
dbSNP: rs1553137543
rs1553137543
PCSK9
1 1.000 0.080 1 55057395 missense variant A/T snv 0.700 0
dbSNP: rs1553137693
rs1553137693
PCSK9
1 1.000 0.080 1 55058546 missense variant A/G snv 0.700 0
dbSNP: rs1553137699
rs1553137699
PCSK9
1 1.000 0.080 1 55058555 missense variant G/T snv 0.700 0
dbSNP: rs28362261
rs28362261
PCSK9
6 0.851 0.160 1 55058129 missense variant A/G snv 1.2E-03 4.8E-03 0.700 0
dbSNP: rs28362263
rs28362263
PCSK9
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 0
dbSNP: rs28362277
rs28362277
PCSK9
1 1.000 0.080 1 55061549 missense variant A/C;T snv 9.6E-04 0.700 0
dbSNP: rs28942111
rs28942111
PCSK9
7 0.807 0.120 1 55044016 missense variant T/A snv 0.700 0
dbSNP: rs371488778
rs371488778
PCSK9
1 1.000 0.080 1 55039879 frameshift variant -/ATGCTG;TG ins 0.12; 2.8E-03; 1.6E-04; 5.6E-05; 7.0E-04; 5.6E-05 0.700 0
dbSNP: rs761767572
rs761767572
PCSK9
1 1.000 0.080 1 55058570 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs772677312
rs772677312
PCSK9
1 1.000 0.080 1 55058543 missense variant C/G snv 2.8E-05 4.2E-05 0.700 0