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rs199472763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472763(A;A)
Make rs199472763(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583544
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472763
ebirs199472763
HLIrs199472763
Exacrs199472763
Varsomers199472763
Maprs199472763
PheGenIrs199472763
hapmaprs199472763
1000 genomesrs199472763
hgdprs199472763
ensemblrs199472763
gopubmedrs199472763
geneviewrs199472763
scholarrs199472763
googlers199472763
pharmgkbrs199472763
gwascentralrs199472763
openSNPrs199472763
23andMers199472763
23andMe allrs199472763
SNP Nexus

SNPshotrs199472763
SNPdbers199472763
MSV3drs199472763
GWAS Ctlgrs199472763
Max Magnitude0
ClinVar
Risk rs199472763(A,G,T;A,G,T)
Alt rs199472763(A,G,T;A,G,T)
Reference rs199472763(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided not specified Cardiac arrhythmia Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided not specified Cardiac arrhythmia Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2604774C>A; NC_000011.9:g.2604774C>G; NC_000011.9:g.2604774C>T
CLNSRC ClinVar
CLNACC RCV000057533.2, RCV000182157.2, RCV000223742.1, RCV000182313.1, RCV000045938.2, RCV000057534.2, RCV000223824.1,