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: rs2382817
rs2382817
PNKD ; TMBIM1
3 0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61 0.810 1.000 3 2012 2017
dbSNP: rs1517352
rs1517352
STAT4
5 0.851 0.160 2 191066738 intron variant A/C snv 0.45 0.800 1.000 2 2012 2015
dbSNP: rs17780256
rs17780256
SLC39A11 ; LOC105371887
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 2 2015 2017
dbSNP: rs12948909
rs12948909
CAVIN1
3 0.925 0.120 17 42418584 intron variant A/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs2395022
rs2395022
KPNA7
1 7 99152756 intergenic variant A/C snv 0.93 0.700 1.000 1 2015 2015
dbSNP: rs2647087
rs2647087 		2 1.000 0.040 6 32713272 upstream gene variant A/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs6017342
rs6017342
LINC01620
3 0.925 0.120 20 44436388 non coding transcript exon variant A/C snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs7165170
rs7165170
CRTC3 ; CRTC3-AS1
2 1.000 0.040 15 90638257 non coding transcript exon variant A/C snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs72796353
rs72796353
NOD2
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.800 1.000 3 2012 2017
dbSNP: rs10051722
rs10051722 		2 1.000 0.040 5 130768383 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs527892258
rs527892258
NOD2
3 0.925 0.040 16 50723350 missense variant A/C;G snv 1.7E-04; 4.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs798502
rs798502
GNA12 ; AMZ1
4 1.000 0.040 7 2750246 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10142466
rs10142466 		1 14 68805067 intergenic variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4149570
rs4149570
TNFRSF1A
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2006 2013
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.070 1.000 7 2007 2020
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 1.000 6 2003 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
dbSNP: rs10761659
rs10761659 		3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.800 1.000 3 2012 2017
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 3 2012 2016