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: rs1422985
rs1422985
SPINK5
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs444762
rs444762
GATA3
2 0.925 0.120 10 8061297 intron variant A/C snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs6780220
rs6780220
GLB1
3 0.882 0.120 3 33045708 non coding transcript exon variant A/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs976078
rs976078 		4 0.882 0.120 13 82963398 intron variant A/C snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1893592
rs1893592
UBASH3A
6 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
19 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 1 2011 2015
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.020 1.000 2 2001 2016
dbSNP: rs2228570
rs2228570
VDR
98 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 < 0.001 1 2013 2013
dbSNP: rs2228145
rs2228145
IL6R
48 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 1 2013 2015
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.060 1.000 6 2004 2012
dbSNP: rs1801275
rs1801275
IL4R
57 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 0.500 2 2001 2014
dbSNP: rs479844
rs479844 		2 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 2 2011 2015
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
20 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.020 1.000 2 2005 2014
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.020 1.000 2 2013 2020
dbSNP: rs11204971
rs11204971
FLG-AS1
2 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 1 2011 2012
dbSNP: rs112111458
rs112111458 		2 0.925 0.120 2 70872975 intergenic variant A/G snv 0.16 0.710 1.000 1 2015 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs13360927
rs13360927
TMEM232
3 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 1 2011 2012
dbSNP: rs17718511
rs17718511
SPINK5
2 0.925 0.120 5 148072009 intron variant A/G snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs2066446
rs2066446
IL12RB2
2 0.925 0.120 1 67315434 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs2158177
rs2158177
TH2LCRR
2 0.925 0.120 5 132648366 intron variant A/G snv 0.18 0.710 1.000 1 2013 2017
dbSNP: rs28441202
rs28441202
RPTN ; PUDPP2
2 0.925 0.120 1 152156387 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs3756094
rs3756094
IRF2
2 0.925 0.120 4 184429780 intron variant A/G snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs4674343
rs4674343
CYP27A1
1 1.000 0.120 2 218795623 intron variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs569108
rs569108
MS4A2
7 0.790 0.200 11 60095631 missense variant A/G snv 4.7E-02 7.3E-02 0.010 1.000 1 2011 2011