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: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.840 1.000 5 2007 2015
dbSNP: rs1457092
rs1457092
MYO9B
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.040 0.750 4 2007 2016
dbSNP: rs1738074
rs1738074
TAGAP ; LOC105378083 ; LOC107986664
9 0.790 0.320 6 159044945 5 prime UTR variant T/C snv 0.49 0.810 1.000 4 2008 2014
dbSNP: rs17810546
rs17810546
IL12A-AS1
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.820 1.000 4 2008 2020
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2002 2018
dbSNP: rs2305767
rs2305767
MYO9B
4 0.882 0.280 19 17183487 intron variant C/T snv 0.70 0.040 0.750 4 2010 2017
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.830 1.000 4 2009 2015
dbSNP: rs13003464
rs13003464
PUS10
7 0.827 0.200 2 60959694 intron variant A/G snv 0.50 0.800 1.000 3 2010 2012
dbSNP: rs13151961
rs13151961
KIAA1109
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.800 1.000 3 2007 2014
dbSNP: rs17264332
rs17264332 		2 0.925 0.200 6 137684378 intron variant A/G;T snv 0.800 1.000 3 2011 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2002 2018
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.800 1.000 3 2011 2016
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.667 3 1998 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
dbSNP: rs2816316
rs2816316
LOC105371664
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.810 1.000 3 2008 2016
dbSNP: rs6441961
rs6441961
UQCRC2P1
1 1.000 0.080 3 46310893 non coding transcript exon variant T/C snv 0.74 0.810 1.000 3 2008 2015
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.810 1.000 3 2008 2011
dbSNP: rs6840978
rs6840978
IL21-AS1
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.710 1.000 3 2007 2015
dbSNP: rs10892258
rs10892258
LOC105369519
4 0.925 0.120 11 118709156 intron variant G/A snv 0.19 0.800 1.000 2 2011 2012
dbSNP: rs11875687
rs11875687
PTPN2
1 1.000 0.080 18 12843138 intron variant T/C snv 0.17 0.800 1.000 2 2011 2012
dbSNP: rs1250552
rs1250552
ZMIZ1
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.800 1.000 2 2010 2011
dbSNP: rs13015714
rs13015714
IL18R1
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.810 1.000 2 2008 2009
dbSNP: rs13119723
rs13119723
KIAA1109
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2007 2008
dbSNP: rs13132308
rs13132308
IL21-AS1
6 0.807 0.160 4 122629959 intron variant A/G snv 0.10 0.800 1.000 2 2011 2012
dbSNP: rs13397
rs13397
TMEM187 ; MIR3202-2
2 0.925 0.200 X 153982797 synonymous variant G/A snv 0.27 0.15 0.800 1.000 2 2011 2012