Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918001
rs121918001
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Mutational and biochemical findings in adults with persistent hypophosphatasemia. 28401263

2017
dbSNP: rs121918001
rs121918001
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Whole-body MRI in the childhood form of hypophosphatasia. 20383509

2011
dbSNP: rs121918001
rs121918001
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: rs121918001
rs121918001
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Kinetic characterization of hypophosphatasia mutations with physiological substrates. 12162492

2002
dbSNP: rs121918001
rs121918001
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. 10839996

2000
dbSNP: rs121918001
rs121918001
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. 1409720

1992
dbSNP: rs121918001
rs121918001
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR