Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918019
rs121918019
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: rs121918019
rs121918019
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. 18559907

2008
dbSNP: rs121918019
rs121918019
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. 10679946

2000
dbSNP: rs121918019
rs121918019
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR