Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15