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: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.030 0.667 3 2004 2012
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.030 0.667 3 1998 2009
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.030 1.000 3 2009 2014
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: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 1.000 3 2008 2012
dbSNP: rs9272346
rs9272346
HLA-DQA1
8 0.790 0.320 6 32636595 intron variant G/A snv 0.54 0.810 1.000 3 2007 2015
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: rs1015166
rs1015166
TAP2
2 0.925 0.120 6 32830954 intron variant C/G;T snv 0.28 0.800 1.000 2 2007 2015
dbSNP: rs1050152
rs1050152
SLC22A4 ; MIR3936HG
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.020 1.000 2 2006 2008
dbSNP: rs10509540
rs10509540
RNLS ; LOC101929727
2 0.925 0.160 10 88263276 upstream gene variant T/C snv 0.25 0.810 1.000 2 2009 2012
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: rs11171739
rs11171739
ERBB3
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.810 1.000 2 2007 2011
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: rs12150220
rs12150220
NLRP1
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.020 1.000 2 2009 2013
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.800 1.000 2 2007 2015
dbSNP: rs12722495
rs12722495
IL2RA
5 0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02 0.710 1.000 2 2011 2019
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.020 1.000 2 2012 2013
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: rs12927355
rs12927355
CLEC16A
3 0.882 0.240 16 11100914 intron variant C/A;T snv 0.29 0.800 1.000 2 2011 2015
dbSNP: rs13126816
rs13126816
TLR3
2 0.925 0.200 4 186073024 intron variant G/A snv 0.21 0.020 1.000 2 2014 2016
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.020 1.000 2 2007 2009
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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 < 0.001 2 2013 2019
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2006 2007
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