Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371243939
rs371243939
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? 18523927

2009
dbSNP: rs371243939
rs371243939
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. 19500388

2009
dbSNP: rs371243939
rs371243939
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Positive maternal serum triple test screening in severe early onset hypophosphatasia. 15300736

2004
dbSNP: rs371243939
rs371243939
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Correlations of genotype and phenotype in hypophosphatasia. 10332035

1999