Source: CURATED ×
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: rs1555910212
rs1555910212 		1.000 0.080 22 50721716 frameshift variant G/- del
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1569115756
rs1569115756 		1.000 0.080 22 50721455 frameshift variant G/- delins
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs762292772
rs762292772 		0.882 0.160 22 50721505 frameshift variant G/-;GG delins
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1555910048
rs1555910048 		1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569097392
rs1569097392 		1.000 22 50676625 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555910162
rs1555910162 		0.925 0.080 22 50721469 frameshift variant -/C delins
CUI: C0026884
Disease: Mutism
Mutism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0