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rs104894579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894579(G;T)
Make rs104894579(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175938
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894579
ebirs104894579
HLIrs104894579
Exacrs104894579
Varsomers104894579
Maprs104894579
PheGenIrs104894579
hapmaprs104894579
1000 genomesrs104894579
hgdprs104894579
ensemblrs104894579
gopubmedrs104894579
geneviewrs104894579
scholarrs104894579
googlers104894579
pharmgkbrs104894579
gwascentralrs104894579
openSNPrs104894579
23andMers104894579
23andMe allrs104894579
SNP Nexus

SNPshotrs104894579
SNPdbers104894579
MSV3drs104894579
GWAS Ctlgrs104894579
Max Magnitude0
OMIM600681
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894579(A,C,T;A,C,T)
Alt rs104894579(A,C,T;A,C,T)
Reference rs104894579(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Andersen Tawil syndrome not provided
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome Andersen Tawil syndrome not provided
Reversed 0
HGVS NC_000017.10:g.68172079G>A; NC_000017.10:g.68172079G>C; NC_000017.10:g.68172079G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000058330.2, RCV000194837.1, RCV000058331.2, RCV000009475.2, RCV000058332.2, RCV000170987.2,


[PMID 21640645] Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.


[PMID 12796536] PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.


[PMID 15831539OA-icon.png] In vivo and in vitro functional characterization of Andersen's syndrome mutations.


[PMID 16217063] Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.


[PMID 11371347] Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.


[PMID 12163457OA-icon.png] Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).


[PMID 17221872] Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.