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rs199473355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473355(C;C)
Make rs199473355(C;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449477
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473355
ebirs199473355
HLIrs199473355
Exacrs199473355
Varsomers199473355
Maprs199473355
PheGenIrs199473355
hapmaprs199473355
1000 genomesrs199473355
hgdprs199473355
ensemblrs199473355
gopubmedrs199473355
geneviewrs199473355
scholarrs199473355
googlers199473355
pharmgkbrs199473355
gwascentralrs199473355
openSNPrs199473355
23andMers199473355
23andMe allrs199473355
SNP Nexus

SNPshotrs199473355
SNPdbers199473355
MSV3drs199473355
GWAS Ctlgrs199473355
Max Magnitude0
ClinVar
Risk rs199473355(C,G;C,G)
Alt rs199473355(C,G;C,G)
Reference rs199473355(T;T)
Significance Pathogenic
Disease not specified Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN not specified Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821775A>C; NC_000021.8:g.35821775A>G
CLNSRC ClinVar
CLNACC RCV000223891.1, RCV000119068.1,