Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763244290
rs763244290
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.700 GeneticVariation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015