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rs199473265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473265(G;T)
Make rs199473265(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38555698
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473265
ebirs199473265
HLIrs199473265
Exacrs199473265
Varsomers199473265
Maprs199473265
PheGenIrs199473265
hapmaprs199473265
1000 genomesrs199473265
hgdprs199473265
ensemblrs199473265
gopubmedrs199473265
geneviewrs199473265
scholarrs199473265
googlers199473265
pharmgkbrs199473265
gwascentralrs199473265
openSNPrs199473265
23andMers199473265
23andMe allrs199473265
SNP Nexus

SNPshotrs199473265
SNPdbers199473265
MSV3drs199473265
GWAS Ctlgrs199473265
Max Magnitude0
ClinVar
Risk rs199473265(T;T)
Alt rs199473265(T;T)
Reference rs199473265(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38597189C>A
CLNSRC ClinVar
CLNACC RCV000058683.2,