Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894251
rs104894251
KCNJ1
0.800 GeneticVariation UNIPROT A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. 9727001

1998
dbSNP: rs104894251
rs104894251
KCNJ1
0.800 GeneticVariation UNIPROT Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. 9002665

1997
dbSNP: rs104894251
rs104894251
KCNJ1
0.800 GeneticVariation UNIPROT Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 8841184

1996
dbSNP: rs104894251
rs104894251
KCNJ1
T 0.800 CausalMutation CLINVAR