rs2297902, CACNA1S

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypokalemic periodic paralysis type 1
0.700 CausalMutation CLINVAR
Hypokalemic periodic paralysis
CUI: C0238358
Disease: Hypokalemic periodic paralysis
0.010 GeneticVariation BEFREE To further reveal the genetic causes of HypoPP, we genotyped members of a five-generational Chinese family with HypoPP patients and identified a novel His916Gln mutation in all male HypoPP patients of the family. 21845430 2012