Disease: High, narrow palate
Source: ALL
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
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45