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rs199473330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473330(G;T)
Make rs199473330(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550527
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473330
ebirs199473330
HLIrs199473330
Exacrs199473330
Varsomers199473330
Maprs199473330
PheGenIrs199473330
hapmaprs199473330
1000 genomesrs199473330
hgdprs199473330
ensemblrs199473330
gopubmedrs199473330
geneviewrs199473330
scholarrs199473330
googlers199473330
pharmgkbrs199473330
gwascentralrs199473330
openSNPrs199473330
23andMers199473330
23andMe allrs199473330
SNP Nexus

SNPshotrs199473330
SNPdbers199473330
MSV3drs199473330
GWAS Ctlgrs199473330
Max Magnitude0
ClinVar
Risk rs199473330(A,T;A,T)
Alt rs199473330(A,T;A,T)
Reference rs199473330(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.38592018C>A; NC_000003.11:g.38592018C>T
CLNSRC ClinVar
CLNACC RCV000058809.2, RCV000183134.1,