Disease: Absent speech
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15