rs145330026, DMPK

N. diseases: 1
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.
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
16 19 45778500 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.8E-04 0.010 1.000 1 2019 2019