Source: BEFREE ×
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: rs4282438
rs4282438
COL11A2P1
5 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.730 1.000 3 2013 2016
dbSNP: rs13117307
rs13117307
EXOC1
6 0.827 0.080 4 55885574 intron variant C/T snv 0.21 0.720 1.000 2 2013 2017
dbSNP: rs2516448
rs2516448 		4 0.827 0.120 6 31422633 intron variant T/C;G snv 0.720 1.000 2 2013 2016
dbSNP: rs3117027
rs3117027
HLA-DPB2
3 0.882 0.080 6 33121846 intron variant C/A;G snv 0.720 1.000 2 2013 2018
dbSNP: rs9272143
rs9272143
HLA-DQA1
3 0.882 0.080 6 32633026 intron variant T/C snv 0.49 0.720 1.000 2 2013 2017
dbSNP: rs9277952
rs9277952 		4 0.851 0.080 6 33236497 upstream gene variant G/A snv 0.10 0.720 1.000 2 2013 2016
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
16 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.710 1.000 1 2014 2017
dbSNP: rs8067378
rs8067378 		8 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.710 1.000 1 2013 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.929 14 2002 2018
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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.833 12 2005 2019
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.909 11 2002 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.909 11 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2018
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.060 1.000 6 2015 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.050 0.600 5 2008 2017
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.050 0.800 5 2012 2018
dbSNP: rs187084
rs187084
TLR9
35 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.050 1.000 5 2012 2019
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.050 0.200 5 2012 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 0.050 1.000 5 2011 2019
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.050 1.000 5 2011 2017
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.040 1.000 4 2010 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.040 1.000 4 2017 2018
dbSNP: rs352140
rs352140
TLR9
41 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.040 0.750 4 2011 2018