ACTN3, actinin alpha 3 (gene/pseudogene), 89

N. diseases: 41; N. variants: 4
Source: ALL
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: rs1815739
rs1815739
0.763 0.240 11 66560624 stop gained C/T snv 0.37
CUI: C0872084
Disease: Sarcopenia
Sarcopenia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011