Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1447313633
rs1447313633
1.000 2 218649090 frameshift variant TT/- del
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
1.000 2 218646330 frameshift variant C/- del
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019