SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502227
rs1060502227
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0333068
Disease:
Flexion contracture
T 0.700 CausalMutation CLINVAR