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rs72550247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72550247(A;A)
Make rs72550247(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35039125
GeneHPN, SCN1B
is asnp
is mentioned by
dbSNPrs72550247
dbSNP (classic)rs72550247
ClinGenrs72550247
ebirs72550247
HLIrs72550247
Exacrs72550247
Gnomadrs72550247
Varsomers72550247
LitVarrs72550247
Maprs72550247
PheGenIrs72550247
Biobankrs72550247
1000 genomesrs72550247
hgdprs72550247
ensemblrs72550247
geneviewrs72550247
scholarrs72550247
googlers72550247
pharmgkbrs72550247
gwascentralrs72550247
openSNPrs72550247
23andMers72550247
SNPshotrs72550247
SNPdbers72550247
MSV3drs72550247
GWAS Ctlgrs72550247
Max Magnitude0
ClinVar
Risk rs72550247(A;A)
Alt rs72550247(A;A)
Reference Rs72550247(G;G)
Significance Pathogenic
Disease Atrial fibrillation not specified Death in early adulthood
Variation info
Gene SCN1B HPN
CLNDBN Atrial fibrillation, familial, 13 not specified Death in early adulthood
Reversed 0
HGVS NC_000019.9:g.35530029G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000054538.2, RCV000171064.3, RCV000234993.1,