Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs7528604
PDE4B
0.925 0.040 1 65941669 intron variant G/A snv 0.42 2
rs12145083 1.000 0.040 1 197853864 intergenic variant T/A snv 0.17 1
rs1296171
PSEN2 ; LOC105373119
1.000 0.040 1 226871905 intron variant C/A;G snv 1
rs1938386
LOC107985354 ; COQ8A
1.000 0.040 1 226909338 intron variant G/T snv 0.57 1
rs2488401
DENND1B
1.000 0.040 1 197733271 intron variant C/A;T snv 1
rs332828
NFIA
1.000 0.040 1 61277021 intron variant G/A snv 0.36 1
rs34644694 1.000 0.040 1 117274369 intron variant C/A snv 0.70 1
rs488359
LOC107984941
1.000 0.040 1 36698055 intergenic variant A/C;G snv 1
rs61731122
CACHD1
1.000 0.040 1 64632626 synonymous variant G/A;T snv 1.8E-02; 4.0E-06 1
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 1
rs17196295
SATB2
1.000 0.040 2 199287475 intron variant A/G snv 0.21 1
rs2672852 1.000 0.040 2 103455652 intergenic variant C/T snv 0.44 1
rs730356 1.000 0.040 2 147779492 intergenic variant T/A snv 0.15 1
rs7567451
LINC01876
1.000 0.040 2 156196868 intron variant G/T snv 0.61 1
rs78260322
LOC105374845 ; RNF103-CHMP3
1.000 0.040 2 86566075 intron variant A/G snv 7.4E-02 1
rs79827531
B3GALT1
1.000 0.040 2 167752805 regulatory region variant G/A snv 0.14 1
rs998884 1.000 0.040 2 147782283 intergenic variant A/G snv 0.37 1
rs2710323
ITIH1
0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 7
rs353547
TWF2
0.925 0.080 3 52234850 intron variant T/C snv 0.64 3
rs1248860
CADM2
1.000 0.040 3 84966628 intron variant G/A snv 0.56 2
rs4434138
STAB1
1.000 0.040 3 52522874 missense variant A/G snv 8.0E-06; 0.44 0.39 2
rs4684833 1.000 0.040 3 11990245 intergenic variant C/T snv 0.79 2
rs4687552
ITIH3
0.925 0.080 3 52804386 non coding transcript exon variant T/C snv 0.33 2
rs76508707
CADM2
1.000 0.040 3 85347899 intron variant C/T snv 0.43 2