rs386834124, CLN8

N. diseases: 4
Disease: Muscle hypotonia ×
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 3 2015 2017