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rs45620037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 increased risk for dilated cardiomyopathy
(T;T) 4 increased risk for dilated cardiomyopathy
ReferenceGRCh38 38.1/141
Chromosome3
Position38613787
GeneSCN5A
is asnp
is mentioned by
dbSNPrs45620037
ebirs45620037
HLIrs45620037
Exacrs45620037
Varsomers45620037
Maprs45620037
PheGenIrs45620037
hapmaprs45620037
1000 genomesrs45620037
hgdprs45620037
ensemblrs45620037
gopubmedrs45620037
geneviewrs45620037
scholarrs45620037
googlers45620037
pharmgkbrs45620037
gwascentralrs45620037
openSNPrs45620037
23andMers45620037
23andMe allrs45620037
SNP Nexus

SNPshotrs45620037
SNPdbers45620037
MSV3drs45620037
GWAS Ctlgrs45620037
GMAF0.0004591
Max Magnitude4

rs45620037, also known as Thr220Ile or T220I, is a SNP in the cardiac sodium channel SCN5A gene.

Individuals with a copy of the rs45620037(T) allele are considered at higher risk for dilated cardiomyopathy; see OMIM for discussion of one such patient.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM600163
Desc
Variant0027
Relatedalso
OMIM600163
Desc
Variant0037
Relatedalso


ClinVar
Risk rs45620037(T;T)
Alt rs45620037(T;T)
Reference rs45620037(C;C)
Significance Other
Disease Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome Nodal rhythm not specified
Variation info
Gene SCN5A
CLNDBN Sick sinus syndrome 1, autosomal recessive Dilated cardiomyopathy 1E Brugada syndrome Nodal rhythm not specified
Reversed 1
HGVS NC_000003.11:g.38655278G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009998.2, RCV000030889.2, RCV000058832.4, RCV000148857.1, RCV000151804.4,



[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

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

[PMID 15671429OA-icon.png] Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

[PMID 20129283OA-icon.png] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

[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.