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rs199472804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472804(C;T)
Make rs199472804(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2776997
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472804
ebirs199472804
HLIrs199472804
Exacrs199472804
Varsomers199472804
Maprs199472804
PheGenIrs199472804
hapmaprs199472804
1000 genomesrs199472804
hgdprs199472804
ensemblrs199472804
gopubmedrs199472804
geneviewrs199472804
scholarrs199472804
googlers199472804
pharmgkbrs199472804
gwascentralrs199472804
openSNPrs199472804
23andMers199472804
23andMe allrs199472804
SNP Nexus

SNPshotrs199472804
SNPdbers199472804
MSV3drs199472804
GWAS Ctlgrs199472804
Max Magnitude0
ClinVar
Risk rs199472804(A,T;A,T)
Alt rs199472804(A,T;A,T)
Reference rs199472804(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2798227C>A; NC_000011.9:g.2798227C>T
CLNSRC ClinVar
CLNACC RCV000046014.2, RCV000057618.2, RCV000182215.2, RCV000046015.3, RCV000057619.2, RCV000223686.1,