rs143657539, PPT1

N. diseases: 2
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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0