Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs121913680
KIT
0.925 0.200 4 54727515 missense variant G/A snv 3
rs767132637 1.000 0.080 7 106867617 missense variant G/A snv 1.6E-05 3
rs1275825411 1.000 0.080 12 57467380 synonymous variant G/A;T snv 4.0E-06 1
rs2228225 1.000 0.080 12 57465648 missense variant G/A;C snv 0.50 0.47 1
rs1180302996 1.000 0.080 9 95480007 synonymous variant C/T snv 7.0E-06 1
rs780893190
SHH
1.000 0.080 7 155803713 synonymous variant C/T snv 8.8E-06 3.5E-05 1
rs770138808
SMO
1.000 0.080 7 129205241 missense variant G/A;C snv 4.0E-06; 4.0E-06 1