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rs199473049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473049(A;A)
Make rs199473049(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38633150
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473049
ebirs199473049
HLIrs199473049
Exacrs199473049
Varsomers199473049
Maprs199473049
PheGenIrs199473049
hapmaprs199473049
1000 genomesrs199473049
hgdprs199473049
ensemblrs199473049
gopubmedrs199473049
geneviewrs199473049
scholarrs199473049
googlers199473049
pharmgkbrs199473049
gwascentralrs199473049
openSNPrs199473049
23andMers199473049
23andMe allrs199473049
SNP Nexus

SNPshotrs199473049
SNPdbers199473049
MSV3drs199473049
GWAS Ctlgrs199473049
Max Magnitude0
ClinVar
Risk rs199473049(A;A)
Alt rs199473049(A;A)
Reference rs199473049(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.38674641C>T
CLNSRC ClinVar
CLNACC RCV000058433.2,