rs766001707, ATXN3

N. diseases: 6
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.
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2019 2019
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
16 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2019 2019
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2019 2019
Familial Amyloid Neuropathy, Portuguese Type
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
2 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2006 2006
Machado-Joseph Disease
CUI: C0024408
Disease: Machado-Joseph Disease
12 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2006 2006
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2006 2006