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: rs13117307
rs13117307
EXOC1
6 0.827 0.080 4 55885574 intron variant C/T snv 0.21 0.020 1.000 2 2017 2018
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: rs12494623
rs12494623
PIK3CA
1 1.000 0.080 3 179214763 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2029166
rs2029166
LOC105369777
1 1.000 0.080 12 54196315 intergenic variant C/T snv 0.33 0.010 1.000 1 2019 2019
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: 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: 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: rs3181224
rs3181224
LOC105377683
1 1.000 0.080 5 159313842 intron variant A/G snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs3729679
rs3729679
PIK3CA
1 1.000 0.080 3 179204642 intron variant A/G snv 0.58 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3219218
rs3219218
UNG
4 0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02 0.010 1.000 1 2018 2018
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: 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: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2015 2015
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
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: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
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: 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: 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