Source: BEFREE ×
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: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 19 2006 2020
dbSNP: rs3197999
rs3197999
APEH ; MST1
10 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.850 1.000 5 2008 2017
dbSNP: rs10500264
rs10500264 		1 1.000 0.080 19 33259408 intergenic variant G/A snv 0.14 0.820 1.000 2 2009 2019
dbSNP: rs2076756
rs2076756
NOD2
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.820 1.000 2 2006 2017
dbSNP: rs6871626
rs6871626 		4 0.851 0.160 5 159399784 intron variant C/A;G snv 0.29 0.820 0.667 2 2012 2017
dbSNP: rs10758669
rs10758669 		5 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.810 1.000 1 2012 2016
dbSNP: rs1250550
rs1250550
ZMIZ1
2 0.851 0.240 10 79300560 intron variant C/A snv 0.27 0.810 1.000 1 2009 2017
dbSNP: rs1893217
rs1893217
PTPN2
7 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 1 2012 2016
dbSNP: rs2382817
rs2382817
PNKD ; TMBIM1
1 0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61 0.810 1.000 1 2012 2017
dbSNP: rs2412973
rs2412973
HORMAD2
1 1.000 0.080 22 30133642 intron variant C/A snv 0.54 0.810 1.000 1 2009 2009
dbSNP: rs3024505
rs3024505 		7 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.810 1.000 1 2012 2017
dbSNP: rs7134599
rs7134599
IFNG-AS1 ; LOC107984526
1 1.000 0.040 12 68106295 intron variant G/A snv 0.32 0.810 1.000 1 2012 2020
dbSNP: rs7554511
rs7554511
INAVA
1 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.810 1.000 1 2012 2017
dbSNP: rs8005161
rs8005161
GPR65
1 0.882 0.120 14 88006251 intron variant C/T snv 0.18 0.810 1.000 1 2012 2019
dbSNP: rs8049439
rs8049439
ATXN2L
2 0.925 0.120 16 28826194 intron variant T/C;G snv 0.38 0.810 1.000 1 2009 2009
dbSNP: rs917997
rs917997 		17 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.810 1.000 1 2008 2012
dbSNP: rs2066844
rs2066844
NOD2
49 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.790 1.000 9 2002 2017
dbSNP: rs116855232
rs116855232
NUDT15
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.750 1.000 5 2016 2019
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
17 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 2 2006 2010
dbSNP: rs11195128
rs11195128 		2 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.710 1.000 1 2014 2017
dbSNP: rs16953946
rs16953946
CDYL2
1 16 80751551 intron variant T/A;C snv 0.710 1.000 1 2016 2016
dbSNP: rs3731257
rs3731257
CDKN2A-DT
2 1.000 0.040 9 21966222 intron variant G/A snv 0.22 0.710 1.000 1 2016 2018
dbSNP: rs3766920
rs3766920
SHC1 ; PYGO2 ; LOC101928120
1 1 154962487 3 prime UTR variant G/A snv 1.2E-03 0.710 1.000 1 2016 2016
dbSNP: rs4676410
rs4676410
GPR35
1 0.716 0.240 2 240624322 intron variant G/A snv 0.26 0.710 1.000 1 2009 2015
dbSNP: rs4728142
rs4728142 		8 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.710 1.000 1 2012 2015