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rs199473080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473080(A;A)
Make rs199473080(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38609843
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473080
ebirs199473080
HLIrs199473080
Exacrs199473080
Varsomers199473080
Maprs199473080
PheGenIrs199473080
hapmaprs199473080
1000 genomesrs199473080
hgdprs199473080
ensemblrs199473080
gopubmedrs199473080
geneviewrs199473080
scholarrs199473080
googlers199473080
pharmgkbrs199473080
gwascentralrs199473080
openSNPrs199473080
23andMers199473080
23andMe allrs199473080
SNP Nexus

SNPshotrs199473080
SNPdbers199473080
MSV3drs199473080
GWAS Ctlgrs199473080
Max Magnitude0
ClinVar
Risk rs199473080(A;A)
Alt rs199473080(A;A)
Reference rs199473080(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.38651334G>T
CLNSRC ClinVar
CLNACC RCV000058847.2,