Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918010
rs121918010
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.810 GeneticVariation CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437

2014
dbSNP: rs121918010
rs121918010
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.810 GeneticVariation CLINVAR Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells. 18455459

2008
dbSNP: rs121918010
rs121918010
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.810 GeneticVariation CLINVAR The genotype-phenotype relationship was, to some extent, consistent with the enzymatic activity of the mutant ALP proteins; mutations K207E and G409C found in a surviving case of infantile hypophosphatasia, as well as F310L, retained some residual activities, whereas T1559del caused a complete loss of activity. 15660230

2005
dbSNP: rs121918010
rs121918010
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.810 GeneticVariation CLINVAR These results suggest that the protein translated from the mutant F310L, in addition to the mutant V365I, may be responsible for the expression of symptoms of the childhood-type HOPS. 15137467

2004
dbSNP: rs121918010
rs121918010
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.810 GeneticVariation CLINVAR Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. 9452105

1998
dbSNP: rs121918010
rs121918010
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.810 CausalMutation CLINVAR