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rs199473136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473136(C;C)
Make rs199473136(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38599026
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473136
ebirs199473136
HLIrs199473136
Exacrs199473136
Varsomers199473136
Maprs199473136
PheGenIrs199473136
hapmaprs199473136
1000 genomesrs199473136
hgdprs199473136
ensemblrs199473136
gopubmedrs199473136
geneviewrs199473136
scholarrs199473136
googlers199473136
pharmgkbrs199473136
gwascentralrs199473136
openSNPrs199473136
23andMers199473136
23andMe allrs199473136
SNP Nexus

SNPshotrs199473136
SNPdbers199473136
MSV3drs199473136
GWAS Ctlgrs199473136
Max Magnitude0
ClinVar
Risk rs199473136(A,C;A,C)
Alt rs199473136(A,C;A,C)
Reference rs199473136(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38640517C>G; NC_000003.11:g.38640517C>T
CLNSRC ClinVar
CLNACC RCV000058463.2, RCV000058462.2, RCV000171572.1,