ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119476046
rs119476046
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
CUI: C0037772
Disease:
Spastic Paraplegia
T 0.700 CausalMutation CLINVAR
dbSNP: rs864622269
rs864622269
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
CUI: C0037772
Disease:
Spastic Paraplegia
0.010 GeneticVariation BEFREE The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. 15742100 2005