Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28938168
rs28938168
FXYD2 ; FXYD6-FXYD2
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.020 GeneticVariation BEFREE We report a p.Gly41Arg FXYD2 mutation in two families with hypomagnesaemia and hypocalciuria. 25765846

2015
dbSNP: rs28938168
rs28938168
FXYD2 ; FXYD6-FXYD2
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.020 GeneticVariation BEFREE We conclude that the arrest of mutant gamma-subunit in distinct intracellular structures is associated with aberrant posttranslational processing and that the G41R mutation causes dominant renal hypomagnesemia associated with hypocalciuria through a dominant negative mechanism. 12763862

2003