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rs386352319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386352319(C;C)
Make rs386352319(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position128911724
GeneKCNJ5
is asnp
is mentioned by
dbSNPrs386352319
dbSNP (classic)rs386352319
ClinGenrs386352319
ebirs386352319
HLIrs386352319
Exacrs386352319
Gnomadrs386352319
Varsomers386352319
LitVarrs386352319
Maprs386352319
PheGenIrs386352319
Biobankrs386352319
1000 genomesrs386352319
hgdprs386352319
ensemblrs386352319
geneviewrs386352319
scholarrs386352319
googlers386352319
pharmgkbrs386352319
gwascentralrs386352319
openSNPrs386352319
23andMers386352319
SNPshotrs386352319
SNPdbers386352319
MSV3drs386352319
GWAS Ctlgrs386352319
Max Magnitude0
ClinVar
Risk rs386352319(A;A) rs386352319(C;C)
Alt rs386352319(A;A) rs386352319(C;C)
Reference Rs386352319(G;G)
Significance Pathogenic
Disease not provided Aldosterone-producing adrenal adenoma Familial hyperaldosteronism type 3
Variation info
Gene KCNJ5
CLNDBN not provided Aldosterone-producing adrenal adenoma, somatic Familial hyperaldosteronism type 3
Reversed 0
HGVS NC_000011.9:g.128781619G>A; NC_000011.9:g.128781619G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000122472.1, RCV000122749.5, RCV000122750.3, RCV000122473.1,