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rs199473224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473224(C;C)
Make rs199473224(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38560404
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473224
dbSNP (old)rs199473224
ClinGenrs199473224
ebirs199473224
HLIrs199473224
Exacrs199473224
Varsomers199473224
Maprs199473224
PheGenIrs199473224
Biobankrs199473224
1000 genomesrs199473224
hgdprs199473224
ensemblrs199473224
gopubmedrs199473224
geneviewrs199473224
scholarrs199473224
googlers199473224
pharmgkbrs199473224
gwascentralrs199473224
openSNPrs199473224
23andMers199473224
23andMe allrs199473224
SNP Nexus

SNPshotrs199473224
SNPdbers199473224
MSV3drs199473224
GWAS Ctlgrs199473224
Max Magnitude0
ClinVar
Risk rs199473224(A;A) rs199473224(C;C)
Alt rs199473224(A;A) rs199473224(C;C)
Reference Rs199473224(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.38601895C>G; NC_000003.11:g.38601895C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058622.3, RCV000058621.3, RCV000183053.4,