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: rs7927894
rs7927894 		12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.840 0.833 6 2009 2017
dbSNP: rs479844
rs479844 		6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 5 2011 2015
dbSNP: rs2897442
rs2897442
KIF3A
2 0.925 0.120 5 132713335 intron variant C/A;T snv 0.820 1.000 4 2011 2015
dbSNP: rs2155219
rs2155219 		14 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.810 1.000 3 2011 2015
dbSNP: rs2164983
rs2164983 		2 0.925 0.120 19 8679120 downstream gene variant C/A;G snv 0.19 0.810 1.000 3 2011 2015
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 3 2011 2015
dbSNP: rs12634229
rs12634229 		3 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.810 1.000 2 2012 2016
dbSNP: rs3126085
rs3126085
FLG-AS1
5 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.810 1.000 2 2011 2012
dbSNP: rs4722404
rs4722404 		4 0.851 0.120 7 3089155 intron variant T/C snv 0.40 0.810 1.000 2 2012 2016
dbSNP: rs878860
rs878860 		3 0.882 0.120 11 7946812 intergenic variant C/T snv 0.35 0.810 1.000 2 2012 2016
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.800 1.000 16 2006 2018
dbSNP: rs1295686
rs1295686
IL13 ; TH2LCRR
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.800 1.000 2 2013 2015
dbSNP: rs13015714
rs13015714
IL18R1
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.800 1.000 2 2012 2015
dbSNP: rs176095
rs176095
PBX2 ; GPSM3
3 0.925 0.160 6 32190542 upstream gene variant A/G snv 0.22 0.800 1.000 2 2012 2015
dbSNP: rs10995251
rs10995251
ZNF365 ; LOC105378327
1 1.000 0.120 10 62638706 intron variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs1444418
rs1444418 		1 1.000 0.120 10 62800710 intron variant A/G snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs16999165
rs16999165 		1 1.000 0.120 20 54190682 intergenic variant A/G snv 5.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs2271404
rs2271404
MIR4435-2HG
1 1.000 0.120 2 111246290 non coding transcript exon variant T/C snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs593982
rs593982 		1 1.000 0.120 11 65745636 upstream gene variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs6661961
rs6661961 		1 1.000 0.120 1 152469813 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs7000782
rs7000782 		1 1.000 0.120 8 80395915 intron variant T/A snv 0.54 0.800 1.000 1 2011 2011
dbSNP: rs7130588
rs7130588 		4 0.882 0.200 11 76559639 regulatory region variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs7613051
rs7613051
GLB1 ; LOC107986073
1 1.000 0.120 3 33023847 intron variant G/A snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs7815944
rs7815944
LINC00824
1 1.000 0.120 8 128415272 intron variant A/G snv 0.12 0.800 1.000 1 2012 2012