Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148211042
rs148211042
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1836705
Disease:
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.800 GeneticVariation UNIPROT Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. 24947683 2014
dbSNP: rs148211042
rs148211042
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1836705
Disease:
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.800 GeneticVariation UNIPROT Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 23180570 2013
dbSNP: rs148211042
rs148211042
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1836705
Disease:
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		T 0.800 CausalMutation CLINVAR