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rs104894575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894575(A;T)
Make rs104894575(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175251
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894575
ebirs104894575
HLIrs104894575
Exacrs104894575
Varsomers104894575
Maprs104894575
PheGenIrs104894575
hapmaprs104894575
1000 genomesrs104894575
hgdprs104894575
ensemblrs104894575
gopubmedrs104894575
geneviewrs104894575
scholarrs104894575
googlers104894575
pharmgkbrs104894575
gwascentralrs104894575
openSNPrs104894575
23andMers104894575
23andMe allrs104894575
SNP Nexus

SNPshotrs104894575
SNPdbers104894575
MSV3drs104894575
GWAS Ctlgrs104894575
Max Magnitude0
OMIM600681
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894575(T;T)
Alt rs104894575(T;T)
Reference rs104894575(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.68171392A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009473.4, RCV000058298.2,


[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).