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rs199473318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473318(A;G)
Make rs199473318(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550967
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473318
ebirs199473318
HLIrs199473318
Exacrs199473318
Varsomers199473318
Maprs199473318
PheGenIrs199473318
hapmaprs199473318
1000 genomesrs199473318
hgdprs199473318
ensemblrs199473318
gopubmedrs199473318
geneviewrs199473318
scholarrs199473318
googlers199473318
pharmgkbrs199473318
gwascentralrs199473318
openSNPrs199473318
23andMers199473318
23andMe allrs199473318
SNP Nexus

SNPshotrs199473318
SNPdbers199473318
MSV3drs199473318
GWAS Ctlgrs199473318
Max Magnitude0
ClinVar
Risk rs199473318(G;G)
Alt rs199473318(G;G)
Reference rs199473318(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.38592458T>C
CLNSRC ClinVar
CLNACC RCV000058780.2,