rs935577712, ATXN2

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.
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
16 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019