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: rs137854544
rs137854544
CTSA
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.030 1.000 3 2014 2019
dbSNP: rs1042031
rs1042031
APOB
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2011 2011
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1349963459
rs1349963459
PSEN1
2 0.925 0.080 14 73170901 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs2296545
rs2296545
RNLS ; LIPJ
8 0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs2528795
rs2528795
ELN ; ELN-AS1
1 1.000 0.040 7 74059164 intron variant T/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3798220
rs3798220
LPA
16 0.732 0.160 6 160540105 missense variant T/C snv 5.6E-02 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 1996 1996
dbSNP: rs563655306
rs563655306
CITED2
2 0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs6254
rs6254
PTH
2 0.925 0.080 11 13492716 intron variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2014 2014
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015