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rs199473283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473283(A;A)
Make rs199473283(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551495
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473283
ebirs199473283
HLIrs199473283
Exacrs199473283
Varsomers199473283
Maprs199473283
PheGenIrs199473283
hapmaprs199473283
1000 genomesrs199473283
hgdprs199473283
ensemblrs199473283
gopubmedrs199473283
geneviewrs199473283
scholarrs199473283
googlers199473283
pharmgkbrs199473283
gwascentralrs199473283
openSNPrs199473283
23andMers199473283
23andMe allrs199473283
SNP Nexus

SNPshotrs199473283
SNPdbers199473283
MSV3drs199473283
GWAS Ctlgrs199473283
Max Magnitude0
ClinVar
Risk rs199473283(A,C;A,C)
Alt rs199473283(A,C;A,C)
Reference rs199473283(G;G)
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.38592986C>G; NC_000003.11:g.38592986C>T
CLNSRC ClinVar
CLNACC RCV000058719.2, RCV000058718.2, RCV000183089.2,