SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
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: rs1555979596
rs1555979596
1.000 0.080 X 74421994 frameshift variant CT/- delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0