Disease: Ataxic cerebral palsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17107315
rs17107315
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0394005
Disease:
Ataxic cerebral palsy 		0.010 GeneticVariation BEFREE One ACP patient (2.2%) was found to carry the most common mutation (N34S) of SPINK1 compared to none of the ALD patients (P=NS). 12939655 2003