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: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs3827066
rs3827066
ZNF335
2 0.925 0.040 20 45957384 intron variant C/T snv 0.12 0.010 < 0.001 1 2020 2020
dbSNP: rs137854485
rs137854485
FBN1
2 0.925 0.160 15 48515402 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs12191786
rs12191786
CASC15
4 0.851 0.120 6 22004398 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs2234681
rs2234681
MMP9
2 1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins 0.010 1.000 1 2018 2018
dbSNP: rs2479409
rs2479409
PCSK9
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.010 < 0.001 1 2018 2018
dbSNP: rs3764261
rs3764261 		26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2836411
rs2836411
ERG
1 1.000 0.040 21 38447907 intron variant C/A;T snv 0.720 1.000 3 2017 2020
dbSNP: rs1795061
rs1795061 		1 1.000 0.040 1 214235937 intergenic variant T/C;G snv 0.710 0.500 2 2017 2020
dbSNP: rs9316871
rs9316871 		1 1.000 0.040 13 22287782 intergenic variant A/G snv 0.22 0.710 0.500 2 2017 2020
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs10985349
rs10985349
DAB2IP
1 1.000 0.040 9 121662964 intron variant C/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 < 0.001 1 2017 2017
dbSNP: rs12133641
rs12133641
IL6R
3 0.925 0.040 1 154455807 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs13382862
rs13382862
LDAH
1 1.000 0.040 2 20682689 upstream gene variant A/G;T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs1385526
rs1385526
LRP1
1 1.000 0.040 12 57138966 intron variant G/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1417938
rs1417938
CRP
10 0.776 0.320 1 159714396 intron variant T/A;C snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs58749629
rs58749629
PCIF1
1 1.000 0.040 20 45942678 intron variant G/A;T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs602633
rs602633 		10 0.851 0.080 1 109278889 downstream gene variant T/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs595244
rs595244
FBN1
3 0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs7866503
rs7866503
CDKN2B-AS1
3 0.882 0.080 9 22091925 intron variant G/T snv 0.50 0.700 1.000 1 2016 2016