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rs199473070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473070(C;C)
Make rs199473070(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38613811
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473070
ebirs199473070
HLIrs199473070
Exacrs199473070
Varsomers199473070
Maprs199473070
PheGenIrs199473070
hapmaprs199473070
1000 genomesrs199473070
hgdprs199473070
ensemblrs199473070
gopubmedrs199473070
geneviewrs199473070
scholarrs199473070
googlers199473070
pharmgkbrs199473070
gwascentralrs199473070
openSNPrs199473070
23andMers199473070
23andMe allrs199473070
SNP Nexus

SNPshotrs199473070
SNPdbers199473070
MSV3drs199473070
GWAS Ctlgrs199473070
Max Magnitude0
ClinVar
Risk rs199473070(A,C;A,C)
Alt rs199473070(A,C;A,C)
Reference rs199473070(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome Atrial standstill 1 Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Atrial standstill 1, digenic Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38655302A>G; NC_000003.11:g.38655302A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000058830.2, RCV000114993.2, RCV000058829.2,