TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
Disease: SPINOCEREBELLAR ATAXIA 11 ×
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: rs80356538
rs80356538 		1.000 0.080 15 42777110 frameshift variant -/T delins 1.2E-05
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs80356539
rs80356539 		1.000 0.080 15 42777152 frameshift variant CT/- delins
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0