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 0.070 0.714 7 2006 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.800 10 2005 2016
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2010 2010
dbSNP: rs2302685
rs2302685
LRP6 ; BCL2L14
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 1.000 1 2012 2012
dbSNP: rs7076156
rs7076156
ZNF365 ; LOC105378327
3 0.925 0.120 10 62655424 missense variant A/C;G snv 0.80 0.810 1.000 2 2011 2012
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2015 2015
dbSNP: rs2302759
rs2302759
CYLD ; LOC105371251
2 1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79 0.700 1.000 1 2007 2007
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 2 2015 2015
dbSNP: rs2933353
rs2933353
MUC19
1 1.000 0.040 12 40464141 non coding transcript exon variant A/C snv 0.76 0.70 0.010 1.000 1 2013 2013
dbSNP: rs832582
rs832582
MAP3K1
2 0.925 0.080 5 56881916 missense variant G/A snv 0.76 0.78 0.010 1.000 1 2008 2008
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.700 1.000 1 2017 2017
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.720 0.667 3 2010 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2013 2013
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.850 1.000 7 2005 2018
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.700 1.000 1 2016 2016
dbSNP: rs2246901
rs2246901
MUC4
3 0.882 0.080 3 195762138 missense variant C/A;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs2243639
rs2243639
SFTPD
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.010 < 0.001 1 2011 2011
dbSNP: rs2274910
rs2274910
ITLN1
6 0.827 0.200 1 160882256 non coding transcript exon variant T/C snv 0.65 0.58 0.800 1.000 1 2008 2008
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2016 2017
dbSNP: rs469758
rs469758
ERAP1 ; LOC102724748
5 0.827 0.120 5 96786011 intron variant C/T snv 0.62 0.63 0.700 1.000 1 2016 2016
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs3761863
rs3761863
LRRK2 ; LOC105369736
1 1.000 0.040 12 40364850 missense variant T/C snv 0.62 0.62 0.020 1.000 2 2013 2016
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2019 2019