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rs199473288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473288(C;T)
Make rs199473288(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551438
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473288
ebirs199473288
HLIrs199473288
Exacrs199473288
Varsomers199473288
Maprs199473288
PheGenIrs199473288
hapmaprs199473288
1000 genomesrs199473288
hgdprs199473288
ensemblrs199473288
gopubmedrs199473288
geneviewrs199473288
scholarrs199473288
googlers199473288
pharmgkbrs199473288
gwascentralrs199473288
openSNPrs199473288
23andMers199473288
23andMe allrs199473288
SNP Nexus

SNPshotrs199473288
SNPdbers199473288
MSV3drs199473288
GWAS Ctlgrs199473288
Max Magnitude0
ClinVar
Risk rs199473288(T;T)
Alt rs199473288(T;T)
Reference rs199473288(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38592929G>A
CLNSRC ClinVar
CLNACC RCV000058727.2, RCV000183091.2,