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rs397514251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGAAGCCC;CAGAAGCCC) 0 common in clinvar
(GAAGCCCCA;GAAGCCCCA) 0 common in clinvar
Make rs397514251(-;-)
Make rs397514251(-;AGAAGCCCC)
Make rs397514251(AGAAGCCCC;AGAAGCCCC)
ReferenceGRCh38 38.1/141
Chromosome3
Position38555679
GeneSCN5A
is asnp
is mentioned by
dbSNPrs397514251
ebirs397514251
HLIrs397514251
Exacrs397514251
Varsomers397514251
Maprs397514251
PheGenIrs397514251
hapmaprs397514251
1000 genomesrs397514251
hgdprs397514251
ensemblrs397514251
gopubmedrs397514251
geneviewrs397514251
scholarrs397514251
googlers397514251
pharmgkbrs397514251
gwascentralrs397514251
openSNPrs397514251
23andMers397514251
23andMe allrs397514251
SNP Nexus

SNPshotrs397514251
SNPdbers397514251
MSV3drs397514251
GWAS Ctlgrs397514251
Max Magnitude0
ClinVar
Risk rs397514251(;)
Alt rs397514251(;)
Reference rs397514251(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 RCV000009962.3, RCV000183165.2,