TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113177981
rs113177981
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs149492745
rs149492745
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs149492745
rs149492745
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs80356538
rs80356538
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2
CUI: C1858351
Disease:
SPINOCEREBELLAR ATAXIA 11 		GT 0.700 CausalMutation CLINVAR Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 18037885 2007
dbSNP: rs80356539
rs80356539
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2
CUI: C1858351
Disease:
SPINOCEREBELLAR ATAXIA 11 		A 0.700 CausalMutation CLINVAR