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: rs1297986
rs1297986
2 1.000 0.080 3 107912675 intron variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs2073244
rs2073244
1 14 36660669 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs374465594
rs374465594
IL2
1 4 122451789 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs76838169
rs76838169
1 13 20188974 missense variant A/G snv 4.4E-03 1.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3775296
rs3775296
6 0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18 0.010 1.000 1 2017 2017
dbSNP: rs7902091
rs7902091
2 1.000 0.040 10 66838534 intron variant C/A snv 0.29 0.710 1.000 1 2014 2014
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 0.500 2 2016 2017
dbSNP: rs3775290
rs3775290
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2017 2017
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.040 0.750 4 2014 2019
dbSNP: rs1061680
rs1061680
2 1.000 0.040 19 54632001 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.060 1.000 6 2007 2019
dbSNP: rs2596538
rs2596538
5 0.851 0.160 6 31400855 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4904210
rs4904210
5 0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33 0.010 1.000 1 2016 2016
dbSNP: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2016 2016
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2019 2019