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: rs10489678
rs10489678
FCRL3
1 1.000 0.120 1 157699878 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10955255
rs10955255
GRHL2
1 1.000 0.120 8 101524177 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1264525329
rs1264525329
SOD2
1 1.000 0.120 6 159682587 missense variant T/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs611419
rs611419
GRHL2 ; LOC107986961 ; LOC107986962
1 1.000 0.120 8 101491489 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs6989650
rs6989650
GRHL2
1 1.000 0.120 8 101669109 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs3736309
rs3736309
AQP5 ; LOC101927318 ; LOC105369764
2 0.925 0.120 12 49964271 intron variant A/G snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs3840634
rs3840634
CAV1
2 0.925 0.120 7 116556798 intron variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs3805435
rs3805435
GPX3 ; LOC105378228
3 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs7522061
rs7522061
FCRL3
4 0.882 0.320 1 157698600 missense variant T/C;G snv 0.45 0.51 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 2013 2013
dbSNP: rs779829591
rs779829591
F3
5 0.827 0.320 1 94532395 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs702553
rs702553
PDE4D
6 0.882 0.160 5 60440946 intron variant A/T snv 0.37 0.010 1.000 1 2016 2016
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: rs2075800
rs2075800
HSPA1L
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1387153
rs1387153 		10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2012 2012
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 0.500 2 2006 2011