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: rs8067378
rs8067378 		12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs853360
rs853360
CD83
1 1.000 0.080 6 14134361 intron variant T/C snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2000 2000
dbSNP: rs9277952
rs9277952 		4 0.851 0.080 6 33236497 upstream gene variant G/A snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs2229634
rs2229634
ITPR3
4 0.851 0.240 6 33670403 synonymous variant C/A;T snv 4.0E-06; 0.33 0.010 1.000 1 2017 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 0.020 1.000 2 2011 2013
dbSNP: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.010 1.000 1 2012 2012
dbSNP: rs9298814
rs9298814
IFNA17
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2003 2003
dbSNP: rs2229546
rs2229546
IL12RB2
1 1.000 0.080 1 67395837 synonymous variant C/A;G;T snv 0.63; 1.2E-05; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs750553272
rs750553272
NFE2L2
4 0.851 0.080 2 177230898 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs16997517
rs16997517
CSF2RB
2 0.925 0.200 22 36937894 missense variant C/T snv 2.6E-02 4.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs10420685
rs10420685
ITPKC
1 1.000 0.080 19 40729215 synonymous variant A/G snv 7.2E-02 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2011 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2011 2011
dbSNP: rs9610
rs9610
IL10RA ; SMIM35
4 0.882 0.240 11 118001371 3 prime UTR variant G/A;T snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2000 2000