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rs199473195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473195(A;A)
Make rs199473195(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38579384
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473195
ebirs199473195
HLIrs199473195
Exacrs199473195
Varsomers199473195
Maprs199473195
PheGenIrs199473195
hapmaprs199473195
1000 genomesrs199473195
hgdprs199473195
ensemblrs199473195
gopubmedrs199473195
geneviewrs199473195
scholarrs199473195
googlers199473195
pharmgkbrs199473195
gwascentralrs199473195
openSNPrs199473195
23andMers199473195
23andMe allrs199473195
SNP Nexus

SNPshotrs199473195
SNPdbers199473195
MSV3drs199473195
GWAS Ctlgrs199473195
Max Magnitude0
ClinVar
Risk rs199473195(A;A)
Alt rs199473195(A;A)
Reference rs199473195(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38620875C>T
CLNSRC ClinVar
CLNACC RCV000058566.2,