rs267606695, CA8

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 Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
4 1.000 0.160 8 60266044 missense variant A/C;G snv 0.800 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009