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rs199473319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473319(C;G)
Make rs199473319(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550902
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473319
ebirs199473319
HLIrs199473319
Exacrs199473319
Varsomers199473319
Maprs199473319
PheGenIrs199473319
hapmaprs199473319
1000 genomesrs199473319
hgdprs199473319
ensemblrs199473319
gopubmedrs199473319
geneviewrs199473319
scholarrs199473319
googlers199473319
pharmgkbrs199473319
gwascentralrs199473319
openSNPrs199473319
23andMers199473319
23andMe allrs199473319
SNP Nexus

SNPshotrs199473319
SNPdbers199473319
MSV3drs199473319
GWAS Ctlgrs199473319
Max Magnitude0
ClinVar
Risk rs199473319(G;G)
Alt rs199473319(G;G)
Reference rs199473319(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592393G>C
CLNSRC ClinVar
CLNACC RCV000058783.2,