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: rs3748079
rs3748079
ITPR3
2 0.925 0.160 6 33620370 5 prime UTR variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2029167
rs2029167
LOC105369777
3 0.925 0.080 12 54196349 intergenic variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs3024656
rs3024656
IL4R
1 1.000 0.080 16 27358288 intron variant G/A snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs727088
rs727088
CD226
8 0.790 0.400 18 69863203 3 prime UTR variant G/A snv 0.47 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: 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: 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: rs4297265
rs4297265
IL12RB2
1 1.000 0.080 1 67386652 synonymous variant G/A;T snv 0.010 1.000 1 2013 2013
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: 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
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2000 2000
dbSNP: rs10877887
rs10877887
LINC01465 ; MIRLET7I
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs13293512
rs13293512 		11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs4705343
rs4705343
MIR143 ; CARMN
7 0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs7296239
rs7296239
LOC105369777
1 1.000 0.080 12 54197920 intergenic variant T/C snv 0.42 0.010 1.000 1 2019 2019
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: rs4282438
rs4282438
COL11A2P1
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs4957014
rs4957014
PDCD6 ; AHRR
11 0.752 0.160 5 287899 intron variant T/G snv 0.74 0.010 1.000 1 2015 2015