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: rs3132453
rs3132453
PRRC2A
2 0.925 0.200 6 31636267 missense variant T/G snv 0.96 0.95 0.700 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.950 80 2004 2020
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2010 2010
dbSNP: rs3134943
rs3134943
RNF5 ; AGPAT1 ; MIR6833
3 0.882 0.240 6 32179984 intron variant T/A;C snv 0.89 0.700 1.000 1 2007 2007
dbSNP: rs2227956
rs2227956
HSPA1L
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.700 1.000 1 2007 2007
dbSNP: rs3129888
rs3129888
HLA-DRA
4 0.882 0.240 6 32443949 intron variant G/A snv 0.82 0.80 0.010 1.000 1 2010 2010
dbSNP: rs3129941
rs3129941
TSBP1 ; TSBP1-AS1
3 0.882 0.240 6 32369909 missense variant A/G;T snv 0.81 0.700 1.000 1 2007 2007
dbSNP: rs3130617
rs3130617
BAG6 ; C6orf47
2 0.925 0.200 6 31659746 missense variant C/T snv 0.79 0.74 0.700 1.000 1 2007 2007
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.010 1.000 1 2014 2014
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.790 1.000 12 2009 2019
dbSNP: rs3842753
rs3842753
INS ; INS-IGF2
1 1.000 0.120 11 2159830 missense variant T/G snv 0.73 0.60 0.010 1.000 1 2015 2015
dbSNP: rs6043409
rs6043409
SIRPG ; SIRPG-AS1
2 1.000 0.120 20 1635560 missense variant A/G snv 0.73 0.72 0.700 1.000 1 2015 2015
dbSNP: rs222747
rs222747
TRPV1
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.010 1.000 1 2013 2013
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 2017 2017
dbSNP: rs1801262
rs1801262
NEUROD1 ; CERKL
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.090 0.778 9 1999 2005
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.030 1.000 3 2012 2015
dbSNP: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.030 0.667 3 2006 2009
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 6 2009 2018
dbSNP: rs5435
rs5435
SLC2A4
6 0.851 0.200 17 7283804 missense variant T/A;C snv 0.65 0.010 < 0.001 1 2017 2017
dbSNP: rs3024866
rs3024866
STAT4
1 1.000 0.120 2 191058115 splice region variant G/A snv 0.64 0.56 0.010 < 0.001 1 2013 2013
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.030 0.667 3 2004 2012
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2014 2014