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rs137854605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs137854605(AA;AA)
Make rs137854605(AA;TC)
ReferenceGRCh38 38.1/141
Chromosome3
Position38581337
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854605
dbSNP (classic)rs137854605
ClinGenrs137854605
ebirs137854605
HLIrs137854605
Exacrs137854605
Gnomadrs137854605
Varsomers137854605
LitVarrs137854605
Maprs137854605
PheGenIrs137854605
Biobankrs137854605
1000 genomesrs137854605
hgdprs137854605
ensemblrs137854605
geneviewrs137854605
scholarrs137854605
googlers137854605
pharmgkbrs137854605
gwascentralrs137854605
openSNPrs137854605
23andMers137854605
SNPshotrs137854605
SNPdbers137854605
MSV3drs137854605
GWAS Ctlgrs137854605
Max Magnitude0
OMIM600163
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137854605(AA;AA)
Alt rs137854605(AA;AA)
Reference Rs137854605(TC;TC)
Significance Pathogenic
Disease Long QT syndrome 3
Variation info
Gene SCN5A
CLNDBN Long QT syndrome 3
Reversed 1
HGVS NC_000003.11:g.38622828_38622829delGAinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009982.2,