Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs41303402
SMO
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 2
rs57343616 1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 2
rs659857 1.000 0.040 11 65862461 synonymous variant T/C snv 0.57 0.52 2
rs746339472 1.000 0.040 9 95506413 missense variant C/T snv 8.0E-06 2.1E-05 2
rs768043782 1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 2
rs774885952 1.000 0.040 12 57464828 missense variant C/T snv 4.0E-06 2
rs79824801 1.000 0.040 12 56334353 intron variant T/C snv 4.5E-02 2
rs893729101 1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 2
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2
rs937023804 1.000 0.040 9 95479023 missense variant C/T snv 2.1E-05 2
rs965337385 1.000 0.040 19 45395856 missense variant T/C snv 2
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214