Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1413274209
rs1413274209
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. 26459154

2016
dbSNP: rs1413274209
rs1413274209
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. 20049532

2010
dbSNP: rs1413274209
rs1413274209
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 GeneticVariation CLINVAR Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. 18925618

2008
dbSNP: rs1413274209
rs1413274209
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: rs1413274209
rs1413274209
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR