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rs199473631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473631(A;A)
Make rs199473631(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551085
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473631
dbSNP (classic)rs199473631
ClinGenrs199473631
ebirs199473631
HLIrs199473631
Exacrs199473631
Gnomadrs199473631
Varsomers199473631
LitVarrs199473631
Maprs199473631
PheGenIrs199473631
Biobankrs199473631
1000 genomesrs199473631
hgdprs199473631
ensemblrs199473631
geneviewrs199473631
scholarrs199473631
googlers199473631
pharmgkbrs199473631
gwascentralrs199473631
openSNPrs199473631
23andMers199473631
SNPshotrs199473631
SNPdbers199473631
MSV3drs199473631
GWAS Ctlgrs199473631
Max Magnitude0
ClinVar
Risk rs199473631(A;A)
Alt rs199473631(A;A)
Reference Rs199473631(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.38592576C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058760.3, RCV000183112.3,