Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201921722 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 3
rs34177316 0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 3
rs17673138 0.851 0.040 8 32840440 intron variant A/C snv 8.6E-02 4
rs2522833 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 1
rs4810896 0.925 0.040 20 48918761 upstream gene variant A/C;G snv 2
rs7189979 0.925 0.040 16 12536330 intron variant A/C;G;T snv 3
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 1
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 1
rs2075650 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 25
rs10968749 0.851 0.040 9 28752486 intergenic variant A/G snv 5.5E-02 4
rs139438618 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 4
rs17158930 0.851 0.040 7 111871082 intron variant A/G snv 0.25 4
rs12555870 0.925 0.040 9 23347726 intron variant A/G snv 0.36 3
rs1411216 0.925 0.040 9 24520196 intergenic variant A/G snv 0.73 3
rs143405544 0.925 0.040 5 65459777 intron variant A/G snv 4.8E-03 3
rs182377406 0.925 0.040 11 67449378 upstream gene variant A/G snv 4.5E-04 3
rs77945277 0.925 0.040 14 34840969 intron variant A/G snv 4.9E-03 3
rs9364726 0.882 0.040 6 164236705 intergenic variant A/G snv 6.5E-02 3
rs10233018 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 2
rs2221540 0.925 0.040 11 132846474 intron variant A/G snv 0.11 2
rs7973260 0.851 0.120 12 117937681 intron variant A/G snv 0.83 2
rs9862857 0.851 0.040 3 30453840 regulatory region variant A/G;T snv 4
rs319924
EYS ; PHF3
0.925 0.040 6 63777354 intron variant A/G;T snv 2
rs2710102 0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs16875288 0.851 0.040 5 5297087 intron variant A/T snv 0.22 4