Disease: Open mouth (finding)
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
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33