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rs199473595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473595(A;A)
Make rs199473595(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38575407
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473595
ebirs199473595
HLIrs199473595
Exacrs199473595
Varsomers199473595
Maprs199473595
PheGenIrs199473595
hapmaprs199473595
1000 genomesrs199473595
hgdprs199473595
ensemblrs199473595
gopubmedrs199473595
geneviewrs199473595
scholarrs199473595
googlers199473595
pharmgkbrs199473595
gwascentralrs199473595
openSNPrs199473595
23andMers199473595
23andMe allrs199473595
SNP Nexus

SNPshotrs199473595
SNPdbers199473595
MSV3drs199473595
GWAS Ctlgrs199473595
Max Magnitude0
ClinVar
Risk rs199473595(A;A)
Alt rs199473595(A;A)
Reference rs199473595(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.38616898C>T
CLNSRC ClinVar
CLNACC RCV000058576.2, RCV000156315.2,