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: rs11003123
rs11003123
MBL2
6 0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs11089620
rs11089620
UBE2L3
1 1.000 0.080 22 21568167 non coding transcript exon variant C/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs1110446
rs1110446
TRIM31
2 0.925 0.120 6 30103160 3 prime UTR variant C/T snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs112120857
rs112120857
APOBEC3C ; APOBEC3F
1 1.000 0.080 22 39018377 missense variant G/C;T snv 5.2E-05; 5.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1126542
rs1126542
HLA-DPA1
1 1.000 0.080 6 33069647 missense variant T/A;C;G snv 0.24 0.28 0.700 1.000 1 2013 2013
dbSNP: rs1126769
rs1126769
HLA-DPA1
1 1.000 0.080 6 33068658 missense variant T/G snv 0.24 0.29 0.700 1.000 1 2013 2013
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
dbSNP: rs11355458
rs11355458
HSPA5 ; LOC107987127
1 1.000 0.080 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2010 2010
dbSNP: rs1140763
rs1140763
HSPA5
1 1.000 0.080 9 125235313 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs114465251
rs114465251
HLA-G
2 0.925 0.120 6 29830642 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11466004
rs11466004
LY96
1 1.000 0.080 8 74029040 missense variant C/G;T snv 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs115492845
rs115492845
HLA-E
2 0.925 0.120 6 30490287 missense variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs115494657
rs115494657
ATP6V0A4
2 0.925 0.120 7 138713456 intron variant G/A snv 5.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs11568695
rs11568695
ABCC4
1 1.000 0.080 13 95044286 synonymous variant C/T snv 1.2E-02 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11569017
rs11569017
EGF
2 0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.040 0.750 4 2015 2018
dbSNP: rs11638027
rs11638027 		1 1.000 0.080 15 90302268 intron variant G/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs11752643
rs11752643 		2 0.925 0.120 6 32701596 downstream gene variant C/T snv 2.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs11866328
rs11866328
GRIN2A
3 0.925 0.120 16 9768699 intron variant G/T snv 0.38 0.810 1.000 1 2011 2011
dbSNP: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs12009
rs12009
HSPA5
1 1.000 0.080 9 125235024 3 prime UTR variant G/A;T snv 0.54 0.010 1.000 1 2010 2010