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: rs7025486
rs7025486
DAB2IP
4 0.851 0.040 9 121660124 intron variant G/A snv 0.28 0.810 1.000 1 2010 2010
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1036095
rs1036095
TGFBR2
1 1.000 0.040 3 30620836 intron variant C/G snv 0.72 0.010 1.000 1 2011 2011
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: rs10758278
rs10758278
PHF24
1 1.000 0.040 9 34825306 intron variant G/A snv 0.53 0.010 1.000 1 2014 2014
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: 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: 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: 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
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: 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: 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