Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. 24569605

2014
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Enzyme-replacement therapy in life-threatening hypophosphatasia. 22397652

2012
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Neurosurgical aspects of childhood hypophosphatasia. 18769927

2009
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 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: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. 15694177

2005
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. 12638946

2002
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. 9781036

1998
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia. 9618260

1998
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. 8406453

1993
dbSNP: rs121918009
rs121918009
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR