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: rs1010824
rs1010824 		1 1.000 0.040 8 107239685 intergenic variant G/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs1020760
rs1020760
NFKB1
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs10754557
rs10754557
NLRP3
1 1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51 0.010 1.000 1 2018 2018
dbSNP: rs11652075
rs11652075
SGSH ; CARD14
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1868554
rs1868554
ANGPT2 ; MCPH1
1 1.000 0.040 8 6529226 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs201285077
rs201285077
CARD14
2 0.882 0.040 17 80198545 missense variant C/G;T snv 4.0E-06; 2.3E-04 3.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs3739390
rs3739390
ANGPT2 ; MCPH1
1 1.000 0.040 8 6562969 5 prime UTR variant C/G snv 6.7E-02 5.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs4810482
rs4810482 		1 1.000 0.040 20 46005911 upstream gene variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs4845454
rs4845454 		1 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 1 2015 2018
dbSNP: rs518604
rs518604
CASP5
1 1.000 0.040 11 104998504 intron variant G/A snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs523104
rs523104
CASP5
1 1.000 0.040 11 104998981 missense variant G/C;T snv 0.46; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018
dbSNP: rs1800024
rs1800024
CCR5 ; CCR5AS
2 0.925 0.080 3 46371068 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs4722404
rs4722404 		4 0.851 0.120 7 3089155 intron variant T/C snv 0.40 0.020 1.000 2 2016 2017
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987
ERAP1
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.010 1.000 1 2018 2018
dbSNP: rs2442598
rs2442598
ANGPT2 ; MCPH1
2 0.925 0.120 8 6537300 intron variant T/C snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs6474412
rs6474412 		2 0.925 0.120 8 42695355 upstream gene variant C/T snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs878329
rs878329 		4 0.882 0.120 17 5649930 intergenic variant G/C snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs27524
rs27524
CAST ; ERAP1
3 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
dbSNP: rs10733113
rs10733113 		3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs17728338
rs17728338 		2 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs3806265
rs3806265
NLRP3
3 0.882 0.160 1 247423034 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs4649203
rs4649203 		4 0.851 0.160 1 24193430 intergenic variant G/A snv 0.61 0.010 1.000 1 2013 2013