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rs104894578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894578(C;T)
Make rs104894578(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175691
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894578
ebirs104894578
HLIrs104894578
Exacrs104894578
Varsomers104894578
Maprs104894578
PheGenIrs104894578
hapmaprs104894578
1000 genomesrs104894578
hgdprs104894578
ensemblrs104894578
gopubmedrs104894578
geneviewrs104894578
scholarrs104894578
googlers104894578
pharmgkbrs104894578
gwascentralrs104894578
openSNPrs104894578
23andMers104894578
23andMe allrs104894578
SNP Nexus

SNPshotrs104894578
SNPdbers104894578
MSV3drs104894578
GWAS Ctlgrs104894578
Max Magnitude0
OMIM600681
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894578(T;T)
Alt rs104894578(T;T)
Reference rs104894578(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.68171832C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009474.2, RCV000058326.2, RCV000170982.3,


[PMID 17074] Regulation of acid proteases during growth, quiescence and starvation in normal and transformed cells.


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


[PMID 15852530] KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome.


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