Source: ALL
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: rs4845454
rs4845454 		2 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 2 2015 2018
dbSNP: rs12489120
rs12489120
BHLHE40 ; BHLHE40-AS1
1 1.000 0.040 3 4978778 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
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: rs27432
rs27432
ERAP1 ; LOC102724748
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.700 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: rs3802826
rs3802826
ETS1
2 0.925 0.040 11 128536543 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4712528
rs4712528
CDKAL1
1 1.000 0.040 6 20678199 intron variant G/C;T snv 0.700 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: 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
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs7536201
rs7536201
RUNX3
2 0.925 0.040 1 24966593 upstream gene variant T/C;G snv 0.700 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: rs7637230
rs7637230
LINC02085
2 0.925 0.040 3 101944711 intron variant A/G;T snv 0.700 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: 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
3 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
12 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: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs2066819
rs2066819
STAT2
2 0.925 0.040 12 56356420 intron variant C/T snv 4.9E-02 4.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs2233278
rs2233278
TNIP1
2 0.925 0.040 5 151087628 5 prime UTR variant G/C;T snv 4.8E-02 0.700 1.000 2 2015 2018
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 		4 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.010 1.000 1 2013 2013