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: 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
dbSNP: rs3129891
rs3129891 		5 0.851 0.160 6 32447303 downstream gene variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs3765534
rs3765534
ABCC4
4 0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs3779250
rs3779250
CRHR2
2 0.925 0.080 7 30654644 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs41311127
rs41311127
SCN5A
2 0.925 0.120 3 38562500 missense variant A/G snv 6.5E-04 4.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs4537731
rs4537731 		3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs4722999
rs4722999
CRHR2
5 0.851 0.080 7 30654159 intron variant C/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs62636489
rs62636489
KRT8 ; MIR9898
3 0.925 0.040 12 52898860 missense variant G/A snv 7.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2004 2004
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6478108
rs6478108
TNFSF15
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs684302
rs684302
TPH1
1 1.000 0.040 11 18038806 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs7130929
rs7130929 		1 1.000 0.040 11 18046616 upstream gene variant C/A snv 0.40 0.010 1.000 1 2013 2013