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rs1231254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1231254(A;T)
Make rs1231254(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position128839052
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs1231254
dbSNP (classic)rs1231254
ClinGenrs1231254
ebirs1231254
HLIrs1231254
Exacrs1231254
Gnomadrs1231254
Varsomers1231254
LitVarrs1231254
Maprs1231254
PheGenIrs1231254
Biobankrs1231254
1000 genomesrs1231254
hgdprs1231254
ensemblrs1231254
geneviewrs1231254
scholarrs1231254
googlers1231254
pharmgkbrs1231254
gwascentralrs1231254
openSNPrs1231254
23andMers1231254
SNPshotrs1231254
SNPdbers1231254
MSV3drs1231254
GWAS Ctlgrs1231254
Max Magnitude0
? (A;A) (A;T) (T;T) 28


[PMID 26313793OA-icon.png] Clinical and Genetic Factors Associated With Thiazide-Induced Hyponatremia


ClinVar
Risk rs1231254(T;T)
Alt rs1231254(T;T)
Reference Rs1231254(A;A)
Significance Non-pathogenic
Disease Antenatal Bartter Syndrome
Variation info
Gene KCNJ1
CLNDBN Antenatal Bartter Syndrome
Reversed 1
HGVS NC_000011.9:g.128708947T>A
CLNSRC
CLNACC RCV000383891.1,