Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs182087934 2 183742707 intergenic variant G/A snv 2
rs190662943 1.000 0.040 2 115195009 intron variant G/A snv 5.6E-04 2
rs2042555 1.000 0.040 2 147797920 intergenic variant G/A snv 0.34 2
rs2215939 1.000 0.040 2 58492312 intron variant T/A snv 0.57 2
rs2717043 1.000 0.040 2 57951884 intron variant C/T snv 0.70 2
rs34030812 1.000 0.040 2 143491336 intron variant T/C snv 0.29 2
rs35609938 1.000 0.040 2 58529594 intron variant T/C snv 0.37 2
rs62183032 1.000 0.040 2 211774137 intron variant A/G;T snv 2
rs62199592 2 183858773 intergenic variant A/G snv 2.1E-02 2
rs72788286 1.000 0.040 2 23875451 intron variant A/C snv 0.12 2
rs72789910 1.000 0.040 2 24165740 intron variant T/G snv 0.17 2
rs74338595 1.000 0.040 2 211885061 intron variant T/C snv 0.23 2
rs7583068 1.000 0.040 2 211769383 intron variant T/A snv 0.33 2
rs7597593 0.827 0.160 2 184668853 intron variant T/C snv 0.53 2
rs76923064 1.000 0.040 2 156300636 downstream gene variant T/C snv 1.2E-02 2
rs11123857 2 100987350 non coding transcript exon variant A/G snv 0.29 1
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 1
rs717454 1.000 0.040 2 99406310 non coding transcript exon variant T/C;G snv 0.44; 8.2E-06 1
rs4625 0.716 0.280 3 49534707 3 prime UTR variant A/G snv 0.30 17
rs6774721 1.000 0.040 3 49344465 upstream gene variant G/A snv 0.15 4
rs11924809 0.925 0.040 3 186353656 intron variant G/A snv 5.3E-02 3
rs142484554 0.925 0.040 3 141059454 intron variant GAG/- delins 0.11 3
rs2251219 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 3
rs7613360 1.000 0.040 3 49879277 upstream gene variant C/T snv 0.32 3
rs13060816
BBX
1.000 0.040 3 107561639 intron variant T/A;C snv 2