Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775067652
rs775067652
CA12
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 GeneticVariation BEFREE In an unrelated consanguineous Omani family, two children with elevated sweat chloride, infantile FTT, and recurrent hyponatremia were homozygous for a novel missense variant (p.His121Gln). 26911677

2016