Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 26432670

2015
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437

2014
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells. 22014174

2012
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. 19232125

2009
dbSNP: rs763159520
rs763159520
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: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. 16769381

2006
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR A molecular approach to dominance in hypophosphatasia. 11479741

2001
dbSNP: rs763159520
rs763159520
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 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