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: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs148735424
rs148735424 		1 1.000 0.120 6 32697982 intergenic variant -/TTCGTC;TTCGTCAGAC delins 0.700 1.000 1 2007 2007
dbSNP: rs35975601
rs35975601
GAB3
1 1.000 0.120 X 154706416 intron variant AA/-;A;AAA;AAAA delins 0.010 1.000 1 2016 2016
dbSNP: rs5790666
rs5790666 		1 1.000 0.120 11 27778324 intron variant G/- delins 0.14 0.700 1.000 1 2019 2019
dbSNP: rs61211515
rs61211515 		2 1.000 0.120 6 30133199 upstream gene variant TT/-;T;TTT;TTTT delins 0.14 0.710 < 0.001 1 2018 2018
dbSNP: rs754622171
rs754622171
PRF1
1 1.000 0.120 10 70598293 frameshift variant C/-;CC delins 8.0E-06; 4.0E-06; 8.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587776825
rs587776825
HNF1A
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.950 80 2004 2020
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: 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: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1998 2019
dbSNP: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.790 1.000 12 2009 2019
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: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.860 0.800 10 2007 2019
dbSNP: rs1801262
rs1801262
NEUROD1 ; CERKL
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.090 0.778 9 1999 2005
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: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.070 0.714 7 2008 2019
dbSNP: rs2292239
rs2292239
ERBB3
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.830 1.000 7 2007 2019
dbSNP: rs3118470
rs3118470
IL2RA
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.070 1.000 7 2007 2017
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.070 0.571 7 2008 2015
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.830 0.667 6 2009 2019
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.060 0.833 6 2009 2019
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.830 1.000 6 2007 2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 6 2009 2018
dbSNP: rs706778
rs706778
IL2RA
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.750 1.000 6 2007 2015