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: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.030 1.000 3 2014 2018
dbSNP: rs12640848
rs12640848
ENAM
2 0.925 0.080 4 70640695 intron variant A/G snv 0.47 0.030 0.667 3 2016 2019
dbSNP: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.020 1.000 2 2017 2019
dbSNP: rs1126478
rs1126478
LTF
10 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.020 < 0.001 2 2014 2018
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.020 1.000 2 2014 2016
dbSNP: rs2278163
rs2278163
DLX3
2 0.925 0.080 17 49995062 5 prime UTR variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs3796704
rs3796704
ENAM
3 0.882 0.120 4 70643714 missense variant G/A snv 7.0E-02 0.13 0.020 1.000 2 2014 2019
dbSNP: rs7671281
rs7671281
ENAM
2 0.925 0.080 4 70643369 missense variant T/C snv 8.0E-02 0.17 0.020 1.000 2 2014 2019
dbSNP: rs1047031
rs1047031
DEFB1
2 0.925 0.080 8 6870676 3 prime UTR variant C/T snv 0.21 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10864376
rs10864376
CA6
2 0.925 0.080 1 8970313 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1126477
rs1126477
LTF
6 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 < 0.001 1 2018 2018
dbSNP: rs1143627
rs1143627
IL1B
45 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs12138897
rs12138897
CA6
2 0.925 0.080 1 8971844 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2018 2018
dbSNP: rs17032907
rs17032907
CA6
2 0.925 0.040 1 8950346 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs17074565
rs17074565 		2 0.925 0.080 13 81668577 intergenic variant C/G snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs17514136
rs17514136
FCN2
1 1.000 0.040 9 134880818 5 prime UTR variant A/G snv 0.23 0.25 0.010 1.000 1 2017 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1784418
rs1784418
MMP20 ; LOC101928477
4 0.851 0.080 11 102613665 intron variant C/A;T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1799946
rs1799946
DEFB1
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1800971
rs1800971
DEFB1
3 0.882 0.120 8 6870594 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs1884302
rs1884302 		2 0.851 0.120 20 7125642 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs2232387
rs2232387
KRT75
2 1.000 0.040 12 52433824 missense variant C/T snv 0.13 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2232398
rs2232398
KRT75
2 0.925 0.120 12 52430567 missense variant C/T snv 7.4E-03 6.5E-03 0.010 1.000 1 2014 2014