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 0.730 1.000 4 2013 2017
dbSNP: rs4282438
rs4282438
COL11A2P1
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.730 1.000 4 2013 2016
dbSNP: rs2516448
rs2516448 		10 0.827 0.120 6 31422633 intron variant T/C;G snv 0.720 1.000 3 2013 2016
dbSNP: rs3117027
rs3117027
HLA-DPB2
3 0.882 0.080 6 33121846 intron variant C/A;G snv 0.720 1.000 3 2013 2018
dbSNP: rs8067378
rs8067378 		12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.720 1.000 3 2013 2017
dbSNP: rs9272143
rs9272143
HLA-DQA1
3 0.882 0.080 6 32633026 intron variant T/C snv 0.49 0.720 1.000 3 2013 2014
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.720 1.000 3 2013 2018
dbSNP: rs9277952
rs9277952 		4 0.851 0.080 6 33236497 upstream gene variant G/A snv 0.10 0.720 1.000 3 2013 2016
dbSNP: rs2116260
rs2116260 		1 1.000 0.080 6 33057663 TF binding site variant T/C snv 8.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs213210
rs213210
RING1 ; MIR219A1
11 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs3117008
rs3117008
HLA-DPB2
1 1.000 0.080 6 33128497 intron variant G/A snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs3117039
rs3117039
HLA-DPB2
2 0.925 0.160 6 33118074 intron variant C/T snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs3129275
rs3129275
HLA-DPB2
1 1.000 0.080 6 33126481 intron variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs4713607
rs4713607
HLA-DPB2
1 1.000 0.080 6 33123059 intron variant G/A snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs7770370
rs7770370
HLA-DPA1 ; HLA-DPB1
2 0.925 0.160 6 33081144 non coding transcript exon variant A/G snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs9391756
rs9391756
HCG24
1 1.000 0.080 6 33148017 upstream gene variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs997363
rs997363
C2orf83
2 0.925 0.080 2 227644742 intron variant C/T snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs929783669
rs929783669
STK11
1 1.000 0.080 19 1220674 missense variant T/C snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.786 14 2004 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.923 13 2002 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2002 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.900 10 2002 2016
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.090 1.000 9 2012 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.090 0.778 9 2005 2019