Source: CURATED ×
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: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
5 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
28 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.800 1.000 4 2006 2018
dbSNP: rs7927894
rs7927894 		5 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.840 0.833 2 2009 2017
dbSNP: rs479844
rs479844 		5 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 3 2011 2015
dbSNP: rs2155219
rs2155219 		12 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.810 1.000 2 2011 2015
dbSNP: rs2164983
rs2164983 		1 0.925 0.120 19 8679120 downstream gene variant C/A;G snv 0.19 0.810 1.000 2 2011 2015
dbSNP: rs2897442
rs2897442
KIF3A
1 0.925 0.120 5 132713335 intron variant C/A;T snv 0.820 1.000 2 2011 2015
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
4 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 2 2011 2015
dbSNP: rs10067777
rs10067777
TMEM232
1 1.000 0.120 5 110490595 intron variant A/G snv 7.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs11204971
rs11204971
FLG-AS1
1 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 1 2011 2012
dbSNP: rs13360927
rs13360927
TMEM232
1 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 1 2011 2012
dbSNP: rs13361382
rs13361382
TMEM232
1 0.882 0.160 5 110713253 intron variant G/A snv 9.3E-02 0.710 1.000 1 2011 2012
dbSNP: rs17173197
rs17173197
PRKAG2
1 1.000 0.120 7 151571834 non coding transcript exon variant C/T snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs2393903
rs2393903
ZNF365
1 1.000 0.120 10 62620576 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs3126085
rs3126085
FLG-AS1
1 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.810 1.000 1 2011 2012
dbSNP: rs512685
rs512685
ZC3H12D
1 1.000 0.120 6 149471889 intron variant G/A snv 0.15 0.700 1.000 1 2011 2011
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: rs7701890
rs7701890
TMEM232
1 1.000 0.120 5 110523120 intron variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs13015714
rs13015714
IL18R1
2 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: rs12634229
rs12634229 		1 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.810 1.000 1 2012 2016
dbSNP: rs1444418
rs1444418 		1 1.000 0.120 10 62800710 intron variant A/G snv 0.22 0.800 1.000 1 2012 2012