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rs179489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Romano-Ward Long QT Syndrome
(C;T) 5 Romano-Ward Long QT Syndrome
Make rs179489(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570652
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs179489
dbSNP (classic)rs179489
ClinGenrs179489
ebirs179489
HLIrs179489
Exacrs179489
Gnomadrs179489
Varsomers179489
LitVarrs179489
Maprs179489
PheGenIrs179489
Biobankrs179489
1000 genomesrs179489
hgdprs179489
ensemblrs179489
geneviewrs179489
scholarrs179489
googlers179489
pharmgkbrs179489
gwascentralrs179489
openSNPrs179489
23andMers179489
SNPshotrs179489
SNPdbers179489
MSV3drs179489
GWAS Ctlgrs179489
Max Magnitude5


ClinVar
Risk rs179489(G;G) rs179489(T;T)
Alt rs179489(G;G) rs179489(T;T)
Reference Rs179489(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed 1
HGVS NC_000011.9:g.2591882G>A; NC_000011.9:g.2591882G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000046066.3, RCV000057684.3, RCV000223900.1, RCV000234807.1, RCV000046067.2, RCV000057685.3, RCV000182077.3,