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: rs10474485
rs10474485
CRHBP
2 1.000 0.040 5 76975028 intron variant C/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs11190140
rs11190140
NKX2-3 ; LINC01475
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs11554825
rs11554825
GPBAR1
3 0.882 0.120 2 218261086 5 prime UTR variant C/T snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs116855232
rs116855232
NUDT15
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1248696
rs1248696
DLG5
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.010 < 0.001 1 2006 2006
dbSNP: rs137854608
rs137854608
SCN5A
2 0.925 0.120 3 38609776 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs1384936174
rs1384936174
NOD2
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs149382949
rs149382949
ANKZF1
2 1.000 0.040 2 219232579 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17837965
rs17837965
CDC42
1 1.000 0.040 1 22068132 intron variant A/G snv 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800532
rs1800532
TPH1
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1800870
rs1800870
ALDH3A2
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs1881457
rs1881457
IL13 ; TH2LCRR
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs199473072
rs199473072
SCN5A
5 0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs201253747
rs201253747
HTR4 ; LOC107986462
2 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2008 2008
dbSNP: rs224222
rs224222
MEFV
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2349775
rs2349775
NXPH1
6 0.851 0.120 7 8678450 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs245051
rs245051
SLC26A2
1 1.000 0.040 5 149966412 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009