Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202085145
rs202085145
SUOX
T 0.700 CausalMutation CLINVAR

dbSNP: rs150594290
rs150594290
ALPL
0.010 GeneticVariation BEFREE Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. 11999978

2002
dbSNP: rs786204473
rs786204473
ALPL
0.010 GeneticVariation BEFREE Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. 11999978

2002
dbSNP: rs373345919
rs373345919
G6PC
0.010 GeneticVariation BEFREE A patient homozygous for R170X showed multiple episodes of profound hypoglycemia associated with convulsions, while P257L was associated with a mild clinical phenotype. 10797430

2000