rs1555103652, GRIN2B

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Self-Injurious Behavior
CUI: C0085271
Disease: Self-Injurious Behavior
9 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0