Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs62100776
DCC
0.925 0.040 18 53228263 intron variant A/T snv 0.35 2
rs6063349 0.925 0.040 20 49065345 intron variant G/A;C;T snv 3
rs5743467 0.925 0.040 8 6874007 intron variant C/G snv 0.19 3
rs56388524 0.925 0.040 5 45757459 intergenic variant C/A;T snv 2.0E-02 3
rs55945116 0.882 0.040 15 84676882 intron variant G/C snv 0.26 4
rs55679149 0.925 0.040 1 89068655 upstream gene variant C/T snv 0.34 3
rs4839421 0.925 0.040 1 110479338 intron variant C/A snv 0.40 3
rs4810896 0.925 0.040 20 48918761 upstream gene variant A/C;G snv 2
rs4761545 0.925 0.040 12 94032692 regulatory region variant G/T snv 0.56 3
rs4685959 0.925 0.040 3 5645577 regulatory region variant C/G;T snv 2
rs4512342 0.827 0.120 8 32750356 intron variant T/G snv 0.12 1
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 1
rs35792458 0.925 0.040 8 10964921 intron variant G/C snv 0.53 3
rs352759 0.925 0.040 8 15742205 intron variant T/A snv 3
rs34177316 0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 3
rs34102224 0.925 0.040 8 5364506 downstream gene variant G/C snv 0.12 3
rs319924
EYS ; PHF3
0.925 0.040 6 63777354 intron variant A/G;T snv 2
rs2984618 0.925 0.040 1 47224766 intron variant G/T snv 0.52 1
rs2979204 0.925 0.040 8 8441347 regulatory region variant T/C snv 0.34 3
rs2710102 0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs2522833 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 1
rs2302045 0.851 0.040 2 241081801 splice region variant G/A snv 7.6E-02 1.0E-01 4
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 1
rs2221540 0.925 0.040 11 132846474 intron variant A/G snv 0.11 2
rs2075650 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 25