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rs104894255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894255(A;A)
Make rs104894255(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583459
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs104894255
ebirs104894255
HLIrs104894255
Exacrs104894255
Varsomers104894255
Maprs104894255
PheGenIrs104894255
hapmaprs104894255
1000 genomesrs104894255
hgdprs104894255
ensemblrs104894255
gopubmedrs104894255
geneviewrs104894255
scholarrs104894255
googlers104894255
pharmgkbrs104894255
gwascentralrs104894255
openSNPrs104894255
23andMers104894255
23andMe allrs104894255
SNP Nexus

SNPshotrs104894255
SNPdbers104894255
MSV3drs104894255
GWAS Ctlgrs104894255
Max Magnitude0
OMIM607542
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894255(A,C,T;A,C,T)
Alt rs104894255(A,C,T;A,C,T)
Reference rs104894255(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2604689G>A; NC_000011.9:g.2604689G>C; NC_000011.9:g.2604689G>T
CLNSRC ClinVar
CLNACC RCV000046174.2, RCV000057818.2, RCV000182139.1, RCV000046175.2, RCV000057819.2, RCV000182140.1,


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.