rs730882197, C12orf4

N. diseases: 4
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.
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
3 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0