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rs104894580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894580(C;T)
Make rs104894580(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175238
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894580
ebirs104894580
HLIrs104894580
Exacrs104894580
Varsomers104894580
Maprs104894580
PheGenIrs104894580
hapmaprs104894580
1000 genomesrs104894580
hgdprs104894580
ensemblrs104894580
gopubmedrs104894580
geneviewrs104894580
scholarrs104894580
googlers104894580
pharmgkbrs104894580
gwascentralrs104894580
openSNPrs104894580
23andMers104894580
23andMe allrs104894580
SNP Nexus

SNPshotrs104894580
SNPdbers104894580
MSV3drs104894580
GWAS Ctlgrs104894580
Max Magnitude0
OMIM600681
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894580(A,T;A,T)
Alt rs104894580(A,T;A,T)
Reference rs104894580(C;C)
Significance Pathogenic
Disease Andersen Tawil syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000017.10:g.68171379C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009478.2, RCV000058294.2, RCV000170971.3,


[PMID 12148092OA-icon.png] KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.


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


[PMID 15851159] Polymorphic ventricular tachycardia and KCNJ2 mutations.


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


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