Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137853214 0.925 0.040 5 87349304 missense variant G/T snv 1
rs137853216 0.925 0.040 5 87349312 missense variant A/G snv 1
rs700635 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 1
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 1
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs2228479 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 1
rs885479 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 1
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs137853215 0.925 0.040 5 87349309 missense variant A/G snv 1
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 1
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 1
rs121918348
SMO
0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05 1
rs2293152 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 1
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1805005 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 2
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 2
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs13014235 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 3
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 3
rs11170164 0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 3
rs12202284 0.925 0.080 6 471136 intron variant C/A;T snv 3
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 4
rs778031266 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4