Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111966833
rs111966833
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0394005
Disease:
Ataxic cerebral palsy
0.010 GeneticVariation BEFREE The P55S mutation was observed in one ICP and one ACP patient, and in three normal individuals. 15082592 2004