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rs28937319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937319(C;T)
Make rs28937319(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38562485
GeneSCN5A
is asnp
is mentioned by
dbSNPrs28937319
ebirs28937319
HLIrs28937319
Exacrs28937319
Varsomers28937319
Maprs28937319
PheGenIrs28937319
hapmaprs28937319
1000 genomesrs28937319
hgdprs28937319
ensemblrs28937319
gopubmedrs28937319
geneviewrs28937319
scholarrs28937319
googlers28937319
pharmgkbrs28937319
gwascentralrs28937319
openSNPrs28937319
23andMers28937319
23andMe allrs28937319
SNP Nexus

SNPshotrs28937319
SNPdbers28937319
MSV3drs28937319
GWAS Ctlgrs28937319
Max Magnitude0
OMIM600163
DescSICK SINUS SYNDROME, CONGENITAL
Variant0025
Relatedalso
ClinVar
Risk rs28937319(T;T)
Alt rs28937319(T;T)
Reference rs28937319(C;C)
Significance Pathogenic
Disease Sick sinus syndrome 1 Sick sinus syndrome
Variation info
Gene SCN5A
CLNDBN Sick sinus syndrome 1, autosomal recessive Sick sinus syndrome
Reversed 1
HGVS NC_000003.11:g.38603976G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009994.2, RCV000058612.2,


[PMID 14523039OA-icon.png] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).


[PMID 20384651] Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.


[PMID 20448214OA-icon.png] Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.


[PMID 20539757OA-icon.png] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.