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rs199473227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473227(C;G)
Make rs199473227(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38560380
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473227
ebirs199473227
HLIrs199473227
Exacrs199473227
Varsomers199473227
Maprs199473227
PheGenIrs199473227
hapmaprs199473227
1000 genomesrs199473227
hgdprs199473227
ensemblrs199473227
gopubmedrs199473227
geneviewrs199473227
scholarrs199473227
googlers199473227
pharmgkbrs199473227
gwascentralrs199473227
openSNPrs199473227
23andMers199473227
23andMe allrs199473227
SNP Nexus

SNPshotrs199473227
SNPdbers199473227
MSV3drs199473227
GWAS Ctlgrs199473227
Max Magnitude0
ClinVar
Risk rs199473227(G;G)
Alt rs199473227(G;G)
Reference rs199473227(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.38601871G>C
CLNSRC ClinVar
CLNACC RCV000058627.2,