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rs199473633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473633(A;G)
Make rs199473633(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551052
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473633
ebirs199473633
HLIrs199473633
Exacrs199473633
Varsomers199473633
Maprs199473633
PheGenIrs199473633
hapmaprs199473633
1000 genomesrs199473633
hgdprs199473633
ensemblrs199473633
gopubmedrs199473633
geneviewrs199473633
scholarrs199473633
googlers199473633
pharmgkbrs199473633
gwascentralrs199473633
openSNPrs199473633
23andMers199473633
23andMe allrs199473633
SNP Nexus

SNPshotrs199473633
SNPdbers199473633
MSV3drs199473633
GWAS Ctlgrs199473633
Max Magnitude0
ClinVar
Risk rs199473633(G;G)
Alt rs199473633(G;G)
Reference rs199473633(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592543T>C
CLNSRC ClinVar
CLNACC RCV000058768.2,