Disease: Macrotia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17