Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28938168
rs28938168
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
0.030 GeneticVariation BEFREE The recurrent p.Gly41Arg FXYD2 mutation in two new families with IDH confirms that FXYD2 mutation causes hypomagnesaemia. 25765846

2015

dbSNP: rs28938168
rs28938168
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
0.030 GeneticVariation BEFREE Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel. 18448590

2008

dbSNP: rs28938168
rs28938168
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
0.030 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