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: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2010 2010
dbSNP: rs5435
rs5435
SLC2A4
6 0.851 0.200 17 7283804 missense variant T/A;C snv 0.65 0.010 < 0.001 1 2017 2017
dbSNP: rs61211515
rs61211515 		2 1.000 0.120 6 30133199 upstream gene variant TT/-;T;TTT;TTTT delins 0.14 0.710 < 0.001 1 2018 2018
dbSNP: rs727088
rs727088
CD226
8 0.790 0.400 18 69863203 3 prime UTR variant G/A snv 0.47 0.010 < 0.001 1 2015 2015
dbSNP: rs72975913
rs72975913
PTPRK
1 1.000 0.120 6 127972787 intron variant C/A snv 0.14 0.010 < 0.001 1 2018 2018
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 < 0.001 1 2006 2006
dbSNP: rs777334819
rs777334819
PPARG
2 0.925 0.120 3 12379856 missense variant G/A snv 3.6E-05 2.1E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs7990
rs7990
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1 1.000 0.120 6 32642188 missense variant C/A snv 6.6E-02 1.3E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs907715
rs907715
IL21
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 < 0.001 1 2010 2010
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.040 0.500 4 2006 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 0.500 2 2006 2018
dbSNP: rs10758593
rs10758593
GLIS3
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.710 0.500 2 2011 2017
dbSNP: rs1167204443
rs1167204443
GAD1
3 0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05 0.020 0.500 2 1999 2003
dbSNP: rs12794714
rs12794714
CYP2R1
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.020 0.500 2 2007 2019
dbSNP: rs17388568
rs17388568
ADAD1
6 0.827 0.280 4 122408207 intron variant G/A snv 0.20 0.020 0.500 2 2010 2019
dbSNP: rs3135002
rs3135002 		2 1.000 0.120 6 32700662 TF binding site variant A/C snv 0.80 0.720 0.500 2 2018 2020
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.020 0.500 2 2006 2008
dbSNP: rs559047
rs559047 		2 1.000 0.120 1 238590616 intergenic variant T/A;C snv 0.720 0.500 2 2018 2020
dbSNP: rs7020673
rs7020673
GLIS3
4 0.882 0.200 9 4291747 intron variant C/A;G snv 0.810 0.500 2 2009 2017
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 0.500 2 2012 2019
dbSNP: rs8192556
rs8192556
NEUROD1 ; CERKL
2 0.925 0.120 2 181678271 missense variant G/T snv 1.9E-02 1.6E-02 0.020 0.500 2 2000 2003
dbSNP: rs909253
rs909253
LTA ; LOC100287329
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.020 0.500 2 2006 2019
dbSNP: rs9260151
rs9260151
HLA-A
2 1.000 0.120 6 29943253 non coding transcript exon variant C/T snv 0.16 0.14 0.720 0.500 2 2018 2020
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.070 0.571 7 2008 2015
dbSNP: rs41295061
rs41295061 		8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.050 0.600 5 2009 2015