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rs104894582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894582(A;A)
Make rs104894582(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175943
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894582
ebirs104894582
HLIrs104894582
Exacrs104894582
Varsomers104894582
Maprs104894582
PheGenIrs104894582
hapmaprs104894582
1000 genomesrs104894582
hgdprs104894582
ensemblrs104894582
gopubmedrs104894582
geneviewrs104894582
scholarrs104894582
googlers104894582
pharmgkbrs104894582
gwascentralrs104894582
openSNPrs104894582
23andMers104894582
23andMe allrs104894582
SNP Nexus

SNPshotrs104894582
SNPdbers104894582
MSV3drs104894582
GWAS Ctlgrs104894582
Max Magnitude0
OMIM600681
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894582(A;A)
Alt rs104894582(A;A)
Reference rs104894582(G;G)
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.68172084G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009480.2, RCV000058333.2,


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