rs1555483699, GRIN2A

N. diseases: 10
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
38 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Large hand
CUI: C0426870
Disease: Large hand
7 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0