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rs199473317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473317(A;G)
Make rs199473317(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551003
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473317
ebirs199473317
HLIrs199473317
Exacrs199473317
Varsomers199473317
Maprs199473317
PheGenIrs199473317
hapmaprs199473317
1000 genomesrs199473317
hgdprs199473317
ensemblrs199473317
gopubmedrs199473317
geneviewrs199473317
scholarrs199473317
googlers199473317
pharmgkbrs199473317
gwascentralrs199473317
openSNPrs199473317
23andMers199473317
23andMe allrs199473317
SNP Nexus

SNPshotrs199473317
SNPdbers199473317
MSV3drs199473317
GWAS Ctlgrs199473317
Max Magnitude0
ClinVar
Risk rs199473317(G;G)
Alt rs199473317(G;G)
Reference rs199473317(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.38592494T>C
CLNSRC ClinVar
CLNACC RCV000058776.2,