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rs199473347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473347(A;A)
Make rs199473347(A;G)
ReferenceGRCh38 38.1/142
Chromosome4
Position113367619
GeneANK2
is asnp
is mentioned by
dbSNPrs199473347
ebirs199473347
HLIrs199473347
Exacrs199473347
Varsomers199473347
Maprs199473347
PheGenIrs199473347
hapmaprs199473347
1000 genomesrs199473347
hgdprs199473347
ensemblrs199473347
gopubmedrs199473347
geneviewrs199473347
scholarrs199473347
googlers199473347
pharmgkbrs199473347
gwascentralrs199473347
openSNPrs199473347
23andMers199473347
23andMe allrs199473347
SNP Nexus

SNPshotrs199473347
SNPdbers199473347
MSV3drs199473347
GWAS Ctlgrs199473347
Max Magnitude0
ClinVar
Risk rs199473347(A,C;A,C)
Alt rs199473347(A,C;A,C)
Reference rs199473347(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene ANK2
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000004.11:g.114288775G>A
CLNSRC Cardiovascular Biomedical Research Unit ClinVar
CLNACC RCV000058345.2,