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rs199473598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473598(A;A)
Make rs199473598(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38566558
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473598
dbSNP (classic)rs199473598
ClinGenrs199473598
ebirs199473598
HLIrs199473598
Exacrs199473598
Gnomadrs199473598
Varsomers199473598
LitVarrs199473598
Maprs199473598
PheGenIrs199473598
Biobankrs199473598
1000 genomesrs199473598
hgdprs199473598
ensemblrs199473598
geneviewrs199473598
scholarrs199473598
googlers199473598
pharmgkbrs199473598
gwascentralrs199473598
openSNPrs199473598
23andMers199473598
SNPshotrs199473598
SNPdbers199473598
MSV3drs199473598
GWAS Ctlgrs199473598
Max Magnitude0
ClinVar
Risk rs199473598(A;A)
Alt rs199473598(A;A)
Reference Rs199473598(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38608049C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058587.3, RCV000183184.1,