ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
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: rs1373219981
rs1373219981
1 17011736 start lost C/A snv 1.3E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017