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

rs397514448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514448(-;-)
Make rs397514448(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38551241
GeneSCN5A
is asnp
is mentioned by
dbSNPrs397514448
dbSNP (classic)rs397514448
ClinGenrs397514448
ebirs397514448
HLIrs397514448
Exacrs397514448
Gnomadrs397514448
Varsomers397514448
LitVarrs397514448
Maprs397514448
PheGenIrs397514448
Biobankrs397514448
1000 genomesrs397514448
hgdprs397514448
ensemblrs397514448
geneviewrs397514448
scholarrs397514448
googlers397514448
pharmgkbrs397514448
gwascentralrs397514448
openSNPrs397514448
23andMers397514448
SNPshotrs397514448
SNPdbers397514448
MSV3drs397514448
GWAS Ctlgrs397514448
Max Magnitude0
ClinVar
Risk rs397514448(-;-)
Alt rs397514448(-;-)
Reference Rs397514448(G;G)
Significance Pathogenic
Disease Heart block
Variation info
Gene SCN5A
CLNDBN Heart block, nonprogressive
Reversed 1
HGVS NC_000003.11:g.38592732delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009976.2,