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rs199473048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473048(A;A)
Make rs199473048(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38633166
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473048
ebirs199473048
HLIrs199473048
Exacrs199473048
Varsomers199473048
Maprs199473048
PheGenIrs199473048
hapmaprs199473048
1000 genomesrs199473048
hgdprs199473048
ensemblrs199473048
gopubmedrs199473048
geneviewrs199473048
scholarrs199473048
googlers199473048
pharmgkbrs199473048
gwascentralrs199473048
openSNPrs199473048
23andMers199473048
23andMe allrs199473048
SNP Nexus

SNPshotrs199473048
SNPdbers199473048
MSV3drs199473048
GWAS Ctlgrs199473048
Max Magnitude0
ClinVar
Risk rs199473048(A;A)
Alt rs199473048(A;A)
Reference rs199473048(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38674657C>T
CLNSRC ClinVar
CLNACC RCV000058423.2, RCV000183168.3,