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: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2010 2010
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: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: rs12494623
rs12494623
PIK3CA
1 1.000 0.080 3 179214763 intron variant C/G;T snv 0.010 1.000 1 2015 2015
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: 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: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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