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rs104894581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894581(C;T)
Make rs104894581(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175596
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894581
ebirs104894581
HLIrs104894581
Exacrs104894581
Varsomers104894581
Maprs104894581
PheGenIrs104894581
hapmaprs104894581
1000 genomesrs104894581
hgdprs104894581
ensemblrs104894581
gopubmedrs104894581
geneviewrs104894581
scholarrs104894581
googlers104894581
pharmgkbrs104894581
gwascentralrs104894581
openSNPrs104894581
23andMers104894581
23andMe allrs104894581
SNP Nexus

SNPshotrs104894581
SNPdbers104894581
MSV3drs104894581
GWAS Ctlgrs104894581
Max Magnitude0
OMIM600681
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894581(T;T)
Alt rs104894581(T;T)
Reference rs104894581(C;C)
Significance Pathogenic
Disease Andersen Tawil syndrome Congenital long QT syndrome
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome Congenital long QT syndrome
Reversed 0
HGVS NC_000017.10:g.68171737C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009479.2, RCV000058319.2,


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