rs1057519274
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057519274(-;CAGCGTGCTCACC) |
Make rs1057519274(CAGCGTGCTCACC;CAGCGTGCTCACC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 73325000 |
Gene | HCN4 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519274 |
dbSNP (classic) | rs1057519274 |
ClinGen | rs1057519274 |
ebi | rs1057519274 |
HLI | rs1057519274 |
Exac | rs1057519274 |
Gnomad | rs1057519274 |
Varsome | rs1057519274 |
LitVar | rs1057519274 |
Map | rs1057519274 |
PheGenI | rs1057519274 |
Biobank | rs1057519274 |
1000 genomes | rs1057519274 |
hgdp | rs1057519274 |
ensembl | rs1057519274 |
geneview | rs1057519274 |
scholar | rs1057519274 |
rs1057519274 | |
pharmgkb | rs1057519274 |
gwascentral | rs1057519274 |
openSNP | rs1057519274 |
23andMe | rs1057519274 |
SNPshot | rs1057519274 |
SNPdbe | rs1057519274 |
MSV3d | rs1057519274 |
GWAS Ctlg | rs1057519274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519274(CAGCGTGCTCACC;CAGCGTGCTCACC) |
Alt | rs1057519274(CAGCGTGCTCACC;CAGCGTGCTCACC) |
Reference | Rs1057519274(-;-) |
Significance | Pathogenic |
Disease | Sick sinus syndrome 2 |
Variation | info |
Gene | HCN4 |
CLNDBN | Sick sinus syndrome 2, autosomal dominant |
Reversed | 1 |
HGVS | NC_000015.9:g.73617342_73617354dupGGTGAGCACGCTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415565.1, |