Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148211042
rs148211042
0.800 GeneticVariation UNIPROT Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. 24947683

2014

dbSNP: rs148211042
rs148211042
0.800 GeneticVariation UNIPROT Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 23180570

2013

dbSNP: rs148211042
rs148211042
T 0.800 CausalMutation CLINVAR