Disease: Short philtrum
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29