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rs121434627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434627(C;C)
Make rs121434627(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35033550
GeneSCN1B
is asnp
is mentioned by
dbSNPrs121434627
dbSNP (classic)rs121434627
ClinGenrs121434627
ebirs121434627
HLIrs121434627
Exacrs121434627
Gnomadrs121434627
Varsomers121434627
LitVarrs121434627
Maprs121434627
PheGenIrs121434627
Biobankrs121434627
1000 genomesrs121434627
hgdprs121434627
ensemblrs121434627
geneviewrs121434627
scholarrs121434627
googlers121434627
pharmgkbrs121434627
gwascentralrs121434627
openSNPrs121434627
23andMers121434627
SNPshotrs121434627
SNPdbers121434627
MSV3drs121434627
GWAS Ctlgrs121434627
Max Magnitude0
OMIM600235
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434627(A;A) rs121434627(C;C)
Alt rs121434627(A;A) rs121434627(C;C)
Reference Rs121434627(G;G)
Significance Pathogenic
Disease Cardiac conduction defect
Variation info
Gene SCN1B
CLNDBN Cardiac conduction defect, nonspecific
Reversed 0
HGVS NC_000019.9:g.35524454G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009837.2,