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: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 1.000 3 2012 2019
dbSNP: rs1131017
rs1131017
RPS26 ; LOC105369780
5 0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs6422747
rs6422747
THBS2 ; LOC101929523
2 1.000 0.120 6 169229688 intron variant G/A snv 0.61 0.68 0.010 1.000 1 2018 2018
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2256965
rs2256965
LST1
2 0.925 0.200 6 31587353 non coding transcript exon variant A/G;T snv 0.60 0.700 1.000 1 2007 2007
dbSNP: rs272893
rs272893
SLC22A4 ; MIR3936HG
2 0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.030 1.000 3 2013 2019
dbSNP: rs185819
rs185819
TNXB
10 0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 0.700 1.000 1 2007 2007
dbSNP: rs1573649
rs1573649
HLA-DQB2
1 1.000 0.120 6 32763481 5 prime UTR variant G/A;C snv 0.56 0.700 1.000 1 2007 2007
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.100 0.950 20 2004 2012
dbSNP: rs734312
rs734312
WFS1
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 1.000 1 2000 2000
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.080 1.000 8 1996 2018
dbSNP: rs9268831
rs9268831
HLA-DRB9
4 0.851 0.280 6 32459971 non coding transcript exon variant C/T snv 0.54 0.51 0.010 1.000 1 2009 2009
dbSNP: rs2407992
rs2407992
TLR8 ; TLR8-AS1
4 0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.900 0.917 12 2007 2015
dbSNP: rs1445898
rs1445898
CAPSL
1 1.000 0.120 5 35910427 missense variant C/T snv 0.51 0.42 0.020 1.000 2 2008 2014
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: rs2239804
rs2239804
HLA-DRA
5 0.851 0.240 6 32443746 intron variant T/A;C snv 0.51 0.700 1.000 1 2007 2007
dbSNP: rs1052486
rs1052486
BAG6
4 0.851 0.200 6 31642909 missense variant A/G snv 0.51 0.44 0.700 1.000 1 2007 2007
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2008 2008
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.900 0.955 22 2007 2018
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
4 0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2007 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2010 2010