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rs387906778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906778(A;G)
Make rs387906778(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128911745
GeneKCNJ5
is asnp
is mentioned by
dbSNPrs387906778
dbSNP (classic)rs387906778
ClinGenrs387906778
ebirs387906778
HLIrs387906778
Exacrs387906778
Gnomadrs387906778
Varsomers387906778
LitVarrs387906778
Maprs387906778
PheGenIrs387906778
Biobankrs387906778
1000 genomesrs387906778
hgdprs387906778
ensemblrs387906778
geneviewrs387906778
scholarrs387906778
googlers387906778
pharmgkbrs387906778
gwascentralrs387906778
openSNPrs387906778
23andMers387906778
SNPshotrs387906778
SNPdbers387906778
MSV3drs387906778
GWAS Ctlgrs387906778
Max Magnitude0
ClinVar
Risk rs387906778(G;G)
Alt rs387906778(G;G)
Reference Rs387906778(A;A)
Significance Pathogenic
Disease Familial hyperaldosteronism type 3 Aldosterone-producing adrenal adenoma Andersen Tawil syndrome
Variation info
Gene KCNJ5
CLNDBN Familial hyperaldosteronism type 3 Aldosterone-producing adrenal adenoma, somatic Andersen Tawil syndrome
Reversed 0
HGVS NC_000011.9:g.128781640A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023035.5, RCV000122747.4, RCV000194572.1,