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: rs1057519691
rs1057519691
PCSK9
2 0.925 0.080 1 55043958 missense variant T/C;G snv 0.700 1.000 4 2012 2017
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.040 1.000 4 2007 2014
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: rs143394031
rs143394031
PCSK9
2 0.925 0.080 1 55058640 missense variant G/A;C;T snv 1.6E-05; 4.9E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs745864657
rs745864657
PCSK9
1 1.000 0.080 1 55063478 frameshift variant CCGGGACG/- delins 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs770256556
rs770256556
PCSK9
1 1.000 0.080 1 55056076 missense variant C/A;T snv 4.3E-06; 4.3E-06 0.010 1.000 1 2010 2010
dbSNP: rs780214893
rs780214893
PCSK9
1 1.000 0.080 1 55063481 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 < 0.001 1 2014 2014
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: rs1372204035
rs1372204035
PCSK9
1 1.000 0.080 1 55039977 missense variant C/G snv 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: 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: rs778849441
rs778849441
PCSK9
2 0.925 0.080 1 55058538 stop gained C/A;G;T snv 4.0E-06; 1.2E-05; 2.4E-05 0.700 0
dbSNP: rs794728683
rs794728683
PCSK9
3 0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs886039839
rs886039839
PCSK9
1 1.000 0.080 1 55040022 missense variant C/A snv 0.700 0
dbSNP: rs886046435
rs886046435
PCSK9
1 1.000 0.080 1 55063510 missense variant G/A;C snv 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