Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75589774
rs75589774
1.000 0.080 5 37182800 missense variant G/A snv 0.11 0.10
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012