rs28937319
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28937319(C;T) |
Make rs28937319(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38562485 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs28937319 |
dbSNP (classic) | rs28937319 |
ClinGen | rs28937319 |
ebi | rs28937319 |
HLI | rs28937319 |
Exac | rs28937319 |
Gnomad | rs28937319 |
Varsome | rs28937319 |
LitVar | rs28937319 |
Map | rs28937319 |
PheGenI | rs28937319 |
Biobank | rs28937319 |
1000 genomes | rs28937319 |
hgdp | rs28937319 |
ensembl | rs28937319 |
geneview | rs28937319 |
scholar | rs28937319 |
rs28937319 | |
pharmgkb | rs28937319 |
gwascentral | rs28937319 |
openSNP | rs28937319 |
23andMe | rs28937319 |
SNPshot | rs28937319 |
SNPdbe | rs28937319 |
MSV3d | rs28937319 |
GWAS Ctlg | rs28937319 |
Max Magnitude | 0 |
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 | RCV000009994.4, RCV000058612.3, |
[PMID 14523039] 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 20448214] Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.
[PMID 20539757] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.