Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042380
rs886042380
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C1853116
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		C 0.700 CausalMutation CLINVAR SYNE1 mutations in autosomal recessive cerebellar ataxia. 23959263 2013
dbSNP: rs886042380
rs886042380
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C1853116
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		C 0.700 CausalMutation CLINVAR Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 17159980 2007