Disease: Long narrow head
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63