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: 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: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
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: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018
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: 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: rs6704688
rs6704688
CASP8
3 0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs72474224
rs72474224
GJB2
8 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
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: rs2395029
rs2395029
HCP5
6 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2020 2020
dbSNP: rs3918254
rs3918254
MMP9
4 0.851 0.200 20 46011752 splice region variant C/T snv 3.0E-02 2.6E-02 0.010 1.000 1 2015 2015
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: 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: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs33980500
rs33980500
TRAF3IP2 ; TRAF3IP2-AS1
13 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.710 1.000 1 2010 2015
dbSNP: rs1799864
rs1799864
CCR2
66 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
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: rs3918242
rs3918242
MMP9
53 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2015 2015
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: rs6265
rs6265
BDNF ; BDNF-AS
264 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
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: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016