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: 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: 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: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 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: 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: rs8087799
rs8087799 		3 0.882 0.080 18 22605468 regulatory region variant G/A snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs77294580
rs77294580
ACE
1 1.000 0.040 17 63480396 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs12695895
rs12695895
AGTR1
3 0.925 0.040 3 148725481 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs919433
rs919433
ANKRD44 ; ANKRD44-IT1
3 0.882 0.080 2 197301841 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
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: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2011 2011
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 0.750 4 2008 2014
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.020 1.000 2 2010 2014
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: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.800 1.000 1 2010 2010
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
dbSNP: rs1057518075
rs1057518075
COL3A1 ; MIR3606
1 1.000 0.040 2 188995061 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 < 0.001 1 2014 2014