Disease: Expressive language delay
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
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10