rs750331613, GRID2

N. diseases: 5
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.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
2 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 0.700 0