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rs199473364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473364(C;C)
Make rs199473364(C;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34370671
GeneKCNE2
is asnp
is mentioned by
dbSNPrs199473364
ebirs199473364
HLIrs199473364
Exacrs199473364
Varsomers199473364
Maprs199473364
PheGenIrs199473364
hapmaprs199473364
1000 genomesrs199473364
hgdprs199473364
ensemblrs199473364
gopubmedrs199473364
geneviewrs199473364
scholarrs199473364
googlers199473364
pharmgkbrs199473364
gwascentralrs199473364
openSNPrs199473364
23andMers199473364
23andMe allrs199473364
SNP Nexus

SNPshotrs199473364
SNPdbers199473364
MSV3drs199473364
GWAS Ctlgrs199473364
Max Magnitude0
ClinVar
Risk rs199473364(A,C;A,C)
Alt rs199473364(A,C;A,C)
Reference rs199473364(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 6
Variation info
Gene KCNE2
CLNDBN Congenital long QT syndrome Long QT syndrome 6
Reversed 0
HGVS NC_000021.8:g.35742970G>A; NC_000021.8:g.35742970G>C
CLNSRC ClinVar
CLNACC RCV000058364.2, RCV000058365.2, RCV000228047.1,