Disease: High, narrow palate
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23