Have questions? Visit https://www.reddit.com/r/SNPedia

rs794728923

From SNPedia

Merged intors397514251
Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGAAGCCC;CAGAAGCCC) 0 common in clinvar
Make rs794728923(-;-)
Make rs794728923(-;CAGAAGCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position38555671
GeneSCN5A
is asnp
is mentioned by
dbSNPrs794728923
dbSNP (classic)rs794728923
ClinGenrs794728923
ebirs794728923
HLIrs794728923
Exacrs794728923
Gnomadrs794728923
Varsomers794728923
LitVarrs794728923
Maprs794728923
PheGenIrs794728923
Biobankrs794728923
1000 genomesrs794728923
hgdprs794728923
ensemblrs794728923
geneviewrs794728923
scholarrs794728923
googlers794728923
pharmgkbrs794728923
gwascentralrs794728923
openSNPrs794728923
23andMers794728923
SNPshotrs794728923
SNPdbers794728923
MSV3drs794728923
GWAS Ctlgrs794728923
StatusMerged into rs397514251
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs794728923(CAGAAGCCC;CAGAAGCCC)
Significance Pathogenic
Disease Long QT syndrome 3 not provided
Variation info
Gene SCN5A
CLNDBN Long QT syndrome 3 not provided
Reversed 1
HGVS NC_000003.11:g.38597162_38597170delGGGCTTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009962.4, RCV000183165.2,