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: 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: 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: 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: 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: 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: 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: 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: rs593982
rs593982 		1 1.000 0.120 11 65745636 upstream gene variant T/A;C snv 0.800 1.000 1 2012 2012
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
dbSNP: rs9368677
rs9368677
HLA-B ; LOC112267902
1 1.000 0.120 6 31304544 intron variant G/A snv 7.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs9469099
rs9469099
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32341131 intron variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs12153855
rs12153855
TNXB
10 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs12198173
rs12198173
TNXB
9 0.827 0.240 6 32059031 intron variant G/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs12211410
rs12211410
TNXB
5 0.925 0.120 6 32081646 missense variant C/G;T snv 5.6E-05; 7.7E-02; 3.7E-05 0.700 1.000 1 2013 2013