rs1156904586, ATP8A2

N. diseases: 3
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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 2012 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 2012 2017
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
3 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 0