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rs199473387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473387(A;C)
Make rs199473387(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175952
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473387
ebirs199473387
HLIrs199473387
Exacrs199473387
Varsomers199473387
Maprs199473387
PheGenIrs199473387
hapmaprs199473387
1000 genomesrs199473387
hgdprs199473387
ensemblrs199473387
gopubmedrs199473387
geneviewrs199473387
scholarrs199473387
googlers199473387
pharmgkbrs199473387
gwascentralrs199473387
openSNPrs199473387
23andMers199473387
23andMe allrs199473387
SNP Nexus

SNPshotrs199473387
SNPdbers199473387
MSV3drs199473387
GWAS Ctlgrs199473387
Max Magnitude0
ClinVar
Risk rs199473387(C,G;C,G)
Alt rs199473387(C,G;C,G)
Reference rs199473387(A;A)
Significance Pathogenic
Disease Andersen Tawil syndrome Congenital long QT syndrome Arrhythmia
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome Congenital long QT syndrome Arrhythmia
Reversed 0
HGVS NC_000017.10:g.68172093A>C; NC_000017.10:g.68172093A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023028.4, RCV000058335.2, RCV000058336.2,


[PMID 17324964] Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.


[PMID 17341397OA-icon.png] KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.