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: 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: 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: rs1800870
rs1800870
ALDH3A2
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2013 2013
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: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2009 2009
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: rs750438327
rs750438327
TG
2 1.000 0.040 8 132888076 missense variant G/A;C snv 7.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs77005575
rs77005575 		2 1.000 0.040 6 32611931 intergenic variant T/C snv 0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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: rs9999118
rs9999118
SPATA5
1 1.000 0.040 4 123130312 intron variant A/G snv 1.2E-02 0.800 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011