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rs199473152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473152(A;G)
Make rs199473152(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38597742
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473152
ebirs199473152
HLIrs199473152
Exacrs199473152
Varsomers199473152
Maprs199473152
PheGenIrs199473152
hapmaprs199473152
1000 genomesrs199473152
hgdprs199473152
ensemblrs199473152
gopubmedrs199473152
geneviewrs199473152
scholarrs199473152
googlers199473152
pharmgkbrs199473152
gwascentralrs199473152
openSNPrs199473152
23andMers199473152
23andMe allrs199473152
SNP Nexus

SNPshotrs199473152
SNPdbers199473152
MSV3drs199473152
GWAS Ctlgrs199473152
Max Magnitude0
ClinVar
Risk rs199473152(G;G)
Alt rs199473152(G;G)
Reference rs199473152(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38639233T>C
CLNSRC ClinVar
CLNACC RCV000058490.2,