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: rs61871342
rs61871342
BLOC1S2
2 1.000 0.040 10 100278884 intron variant G/A snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs13107612
rs13107612
BANK1
5 0.827 0.120 4 101818823 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs17266594
rs17266594
BANK1
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2011 2011
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2011 2011
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: rs4851529
rs4851529
LOC107985926
5 0.827 0.120 2 102030838 downstream gene variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs871656
rs871656
IL1R1
5 0.827 0.120 2 102154822 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12987977
rs12987977
IL18R1
5 0.827 0.120 2 102358876 intron variant T/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2075184
rs2075184 		14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs3774937
rs3774937
NFKB1
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs1020760
rs1020760
NFKB1
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.020 1.000 2 2014 2016
dbSNP: rs7665090
rs7665090
MANBA
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs12972990
rs12972990
ICAM5
1 1.000 0.040 19 10295755 intron variant T/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs73510898
rs73510898
ZGLP1
2 0.925 0.120 19 10305768 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs74956615
rs74956615
FDX2 ; RAVER1
6 0.807 0.160 19 10317045 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.810 1.000 2 2012 2018
dbSNP: rs35018800
rs35018800
TYK2
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 4 2010 2018
dbSNP: rs280519
rs280519
TYK2
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.800 1.000 1 2010 2010
dbSNP: rs1002212321
rs1002212321
RIMS2
1 1.000 0.040 8 103931366 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs527418169
rs527418169
RIMS2 ; LOC105375688
1 1.000 0.040 8 104093501 missense variant G/A;T snv 4.4E-06; 4.4E-06 0.010 1.000 1 2008 2008
dbSNP: rs11053802
rs11053802
KLRC1
1 1.000 0.040 12 10444608 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1051738
rs1051738
PDE4A
1 1.000 0.040 19 10467167 missense variant C/A;T snv 0.17; 4.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs62131887
rs62131887 		14 0.724 0.240 19 10476920 intergenic variant C/T snv 0.37 0.700 1.000 1 2015 2015