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: rs4620530
rs4620530
CHRM3 ; CHRM3-AS1
2 0.925 0.080 1 239900521 intron variant T/G snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs2293370
rs2293370
TIMMDC1
3 0.882 0.160 3 119501087 intron variant G/A snv 0.18 0.810 1.000 7 2011 2019
dbSNP: rs4979462
rs4979462
TNFSF15
7 0.790 0.240 9 114804733 intron variant C/T snv 0.13 0.830 1.000 5 2012 2019
dbSNP: rs12697352
rs12697352
LOC105374724
2 0.925 0.120 5 35837132 regulatory region variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17033015
rs17033015 		1 1.000 0.080 4 102625147 intergenic variant A/C snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs1794280
rs1794280 		2 1.000 0.080 6 32699394 intergenic variant A/T snv 9.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs4795395
rs4795395
IKZF3
1 1.000 0.080 17 39806734 intron variant T/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs492899
rs492899
CYP21A2 ; SKIV2L
4 0.882 0.240 6 31965741 intron variant T/C snv 0.12 0.15 0.700 1.000 1 2019 2019
dbSNP: rs231725
rs231725 		4 0.851 0.240 2 203875952 downstream gene variant G/A snv 0.38 0.070 1.000 7 2008 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 1.000 5 2011 2017
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.050 1.000 5 2010 2017
dbSNP: rs9303277
rs9303277
IKZF3
9 0.790 0.240 17 39820216 intron variant C/T snv 0.52 0.800 1.000 5 2010 2017
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.800 1.000 3 2011 2017
dbSNP: rs10168266
rs10168266
STAT4
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2006 2017
dbSNP: rs3732421
rs3732421
TMEM39A
1 1.000 0.080 3 119431242 3 prime UTR variant A/G snv 0.15 0.800 1.000 2 2011 2017
dbSNP: rs4938534
rs4938534
POU2AF1 ; BTG4
2 0.925 0.080 11 111404408 intron variant G/A snv 0.56 0.810 1.000 2 2012 2017
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.020 1.000 2 2010 2017
dbSNP: rs582537
rs582537
IL12A ; IL12A-AS1
1 1.000 0.080 3 159992311 intron variant A/C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs10415976
rs10415976
ARID3A
1 1.000 0.080 19 941603 intron variant A/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12946510
rs12946510 		5 0.851 0.160 17 39756124 downstream gene variant C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs137603
rs137603 		1 1.000 0.080 22 39298220 downstream gene variant A/C snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs1598856
rs1598856
NFKB1
1 1.000 0.080 4 102524958 intron variant A/G snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs17005934
rs17005934
IL21-AS1
1 1.000 0.080 4 122628544 intron variant T/C snv 9.2E-02 0.700 1.000 1 2017 2017