SLC25A1, solute carrier family 25 member 1, 6576

N. diseases: 168; N. variants: 15
Disease: Proximal muscle weakness ×
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: rs781908532
rs781908532 		0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0