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rs199472678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472678(A;G)
Make rs199472678(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445430
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472678
ebirs199472678
HLIrs199472678
Exacrs199472678
Varsomers199472678
Maprs199472678
PheGenIrs199472678
hapmaprs199472678
1000 genomesrs199472678
hgdprs199472678
ensemblrs199472678
gopubmedrs199472678
geneviewrs199472678
scholarrs199472678
googlers199472678
pharmgkbrs199472678
gwascentralrs199472678
openSNPrs199472678
23andMers199472678
23andMe allrs199472678
SNP Nexus

SNPshotrs199472678
SNPdbers199472678
MSV3drs199472678
GWAS Ctlgrs199472678
Max Magnitude0
ClinVar
Risk rs199472678(G;G)
Alt rs199472678(G;G)
Reference rs199472678(A;A)
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.2466660A>G
CLNSRC ClinVar
CLNACC RCV000046048.2, RCV000057659.2, RCV000182260.2,