KIF1C, kinesin family member 1C, 10749

N. diseases: 49; N. variants: 9
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690773
rs1131690773
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		G 0.700 CausalMutation CLINVAR SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 28687974 2017