BRSK2, BR serine/threonine kinase 2, 9024

N. diseases: 33; N. variants: 5
Source: ALL
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: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- 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 2019 2019
dbSNP: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760 		0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs1554904159
rs1554904159 		0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772 		0.882 0.280 11 1443490 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772 		0.882 0.280 11 1443490 missense variant G/A snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772 		0.882 0.280 11 1443490 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772 		0.882 0.280 11 1443490 missense variant G/A snv
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 2019 2019
dbSNP: rs1881505
rs1881505 		11 1461947 3 prime UTR variant T/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs60707923
rs60707923 		11 1451978 intron variant G/A snv 0.20
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018