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: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.030 1.000 3 2009 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2008 2017
dbSNP: rs11552708
rs11552708
TNFSF13 ; TNFSF12-TNFSF13
5 0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06 0.030 0.667 3 2007 2017
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.800 1.000 3 2011 2017
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.030 0.333 3 2012 2015
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2012 2019
dbSNP: rs387619
rs387619 		1 1.000 0.080 11 35076646 intergenic variant T/A;C snv 0.710 1.000 3 2011 2016
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.030 1.000 3 2002 2013
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.030 1.000 3 2009 2019
dbSNP: rs72556555
rs72556555
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
1 1.000 0.080 3 48467375 missense variant G/A;C snv 2.0E-05; 2.0E-04 0.700 1.000 3 2007 2013
dbSNP: rs7601754
rs7601754
STAT4
3 0.882 0.160 2 191075725 intron variant G/A;T snv 0.810 1.000 3 2010 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2008 2017
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.810 1.000 3 2008 2016
dbSNP: rs1150754
rs1150754
TNXB
4 0.851 0.200 6 32082981 intron variant C/A;T snv 0.810 1.000 2 2011 2017
dbSNP: rs1150757
rs1150757
TNXB
2 0.925 0.160 6 32061428 synonymous variant G/A;C snv 5.9E-02 0.700 1.000 2 2015 2016
dbSNP: rs11755393
rs11755393
UHRF1BP1
2 1.000 0.080 6 34856859 missense variant A/G;T snv 0.36 0.710 1.000 2 2009 2011
dbSNP: rs13306575
rs13306575
NCF2 ; SMG7
1 1.000 0.080 1 183563302 missense variant G/A;C;T snv 1.9E-02; 4.0E-06; 4.0E-06 0.710 1.000 2 2015 2016
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2012 2017
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.020 1.000 2 2010 2016
dbSNP: rs2075596
rs2075596
MECP2
1 1.000 0.080 X 154031941 intron variant A/C;G snv 0.020 1.000 2 2013 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2013 2017
dbSNP: rs2243188
rs2243188
IL19 ; LOC105372878
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.020 1.000 2 2014 2016
dbSNP: rs268134
rs268134
SPRED2
3 0.925 0.120 2 65381229 intron variant A/C;G;T snv 0.700 1.000 2 2015 2016
dbSNP: rs2732549
rs2732549
LOC105376626
1 1.000 0.080 11 35066852 regulatory region variant G/A;C snv 0.700 1.000 2 2015 2017