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rs104894583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894583(A;C)
Make rs104894583(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175685
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894583
ebirs104894583
HLIrs104894583
Exacrs104894583
Varsomers104894583
Maprs104894583
PheGenIrs104894583
hapmaprs104894583
1000 genomesrs104894583
hgdprs104894583
ensemblrs104894583
gopubmedrs104894583
geneviewrs104894583
scholarrs104894583
googlers104894583
pharmgkbrs104894583
gwascentralrs104894583
openSNPrs104894583
23andMers104894583
23andMe allrs104894583
SNP Nexus

SNPshotrs104894583
SNPdbers104894583
MSV3drs104894583
GWAS Ctlgrs104894583
Max Magnitude0
OMIM600681
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894583(C;C)
Alt rs104894583(C;C)
Reference rs104894583(A;A)
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.68171826A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009481.4, RCV000058324.2,


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