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: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs11575993
rs11575993
SOD2
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11593576
rs11593576
ZMIZ1
2 0.925 0.040 10 79256139 intron variant C/T snv 0.29 0.800 1.000 1 2010 2010
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2013 2015
dbSNP: rs117744081
rs117744081
CPVL
4 0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11964542
rs11964542
TRIM31 ; TRIM31-AS1
1 1.000 0.040 6 30103983 non coding transcript exon variant T/C snv 7.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.810 0.500 2 2010 2013
dbSNP: rs11966619
rs11966619
LOC105375012
1 1.000 0.040 6 30461256 intergenic variant T/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs11967808
rs11967808
TRIM26
1 1.000 0.040 6 30211411 intron variant G/C snv 3.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12150220
rs12150220
NLRP1
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2017 2017
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs12198173
rs12198173
TNXB
9 0.827 0.240 6 32059031 intron variant G/A snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs12201301
rs12201301 		1 1.000 0.040 6 31039780 downstream gene variant G/A snv 2.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs12206131
rs12206131
LINC01149
1 1.000 0.040 6 31446233 non coding transcript exon variant A/G snv 1.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs12206499
rs12206499
HLA-A
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs12301088
rs12301088
IFNG-AS1
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
MDM1 ; LOC105369818
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2020 2020
dbSNP: rs12421615
rs12421615
PLCB3
1 1.000 0.040 11 64254133 intron variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs12482904
rs12482904
UBASH3A
1 1.000 0.040 21 42431719 intron variant T/A snv 0.16 0.700 1.000 1 2016 2016