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: rs1305542291
rs1305542291
0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1395475624
rs1395475624
0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555447569
rs1555447569
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017