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rs199473187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473187(C;T)
Make rs199473187(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38580953
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473187
ebirs199473187
HLIrs199473187
Exacrs199473187
Varsomers199473187
Maprs199473187
PheGenIrs199473187
hapmaprs199473187
1000 genomesrs199473187
hgdprs199473187
ensemblrs199473187
gopubmedrs199473187
geneviewrs199473187
scholarrs199473187
googlers199473187
pharmgkbrs199473187
gwascentralrs199473187
openSNPrs199473187
23andMers199473187
23andMe allrs199473187
SNP Nexus

SNPshotrs199473187
SNPdbers199473187
MSV3drs199473187
GWAS Ctlgrs199473187
Max Magnitude0
ClinVar
Risk rs199473187(T;T)
Alt rs199473187(T;T)
Reference rs199473187(C;C)
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.38622444G>A
CLNSRC ClinVar
CLNACC RCV000058554.2, RCV000183027.3,