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: rs3135388
rs3135388
HLA-DRA
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 < 0.001 1 2010 2010
dbSNP: rs3808607
rs3808607
CYP7A1
16 0.716 0.400 8 58500365 upstream gene variant G/T snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs150587304
rs150587304
AQP4 ; AQP4-AS1
1 1.000 0.120 18 26862573 stop gained C/A;G snv 3.2E-05; 2.9E-04 0.010 1.000 1 2011 2011
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800693
rs1800693
TNFRSF1A
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.020 1.000 2 2013 2014
dbSNP: rs12288280
rs12288280
CD6
1 1.000 0.120 11 60988884 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1411751
rs1411751
GPC5
2 0.925 0.120 13 92245255 intron variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs4149577
rs4149577
TNFRSF1A
7 0.827 0.280 12 6338356 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs422951
rs422951
NOTCH4
8 0.807 0.280 6 32220606 missense variant T/C snv 0.40 0.40 0.010 1.000 1 2013 2013
dbSNP: rs767455
rs767455
TNFRSF1A
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2013 2013
dbSNP: rs9523762
rs9523762
GPC5 ; LOC105370315
2 0.925 0.120 13 92679633 intron variant G/A snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs2300747
rs2300747
CD58 ; MIR548AC
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.020 1.000 2 2014 2017
dbSNP: rs1016140
rs1016140
CD58
1 1.000 0.120 1 116533925 non coding transcript exon variant G/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs548234
rs548234
ATG5
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs6937876
rs6937876
ATG5
2 0.925 0.200 6 106132754 intron variant G/A snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs10876994
rs10876994 		2 0.925 0.120 12 57670954 upstream gene variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1520333
rs1520333
PKIA-AS1 ; LOC105375911
2 0.925 0.120 8 78488803 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs2282284
rs2282284
FCRL3
2 0.925 0.120 1 157678753 missense variant T/C snv 5.4E-02 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs2887502
rs2887502
LOC105375914
2 0.925 0.120 8 78844356 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs3761959
rs3761959
FCRL3
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2015 2015
dbSNP: rs703842
rs703842
CYP27B1 ; METTL1
4 0.851 0.240 12 57768956 missense variant A/G snv 0.38 0.33 0.010 1.000 1 2015 2015
dbSNP: rs945635
rs945635
FCRL3
4 0.882 0.200 1 157700500 5 prime UTR variant C/A;G snv 5.6E-05; 0.45 0.010 1.000 1 2015 2015
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs773144793
rs773144793
CH25H
1 1.000 0.120 10 89207242 missense variant C/G snv 3.7E-05 7.0E-06 0.010 1.000 1 2016 2016