rs1057519275
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057519275(C;C) |
Make rs1057519275(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 73329722 |
Gene | HCN4 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519275 |
dbSNP (classic) | rs1057519275 |
ClinGen | rs1057519275 |
ebi | rs1057519275 |
HLI | rs1057519275 |
Exac | rs1057519275 |
Gnomad | rs1057519275 |
Varsome | rs1057519275 |
LitVar | rs1057519275 |
Map | rs1057519275 |
PheGenI | rs1057519275 |
Biobank | rs1057519275 |
1000 genomes | rs1057519275 |
hgdp | rs1057519275 |
ensembl | rs1057519275 |
geneview | rs1057519275 |
scholar | rs1057519275 |
rs1057519275 | |
pharmgkb | rs1057519275 |
gwascentral | rs1057519275 |
openSNP | rs1057519275 |
23andMe | rs1057519275 |
SNPshot | rs1057519275 |
SNPdbe | rs1057519275 |
MSV3d | rs1057519275 |
GWAS Ctlg | rs1057519275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519275(C;C) |
Alt | rs1057519275(C;C) |
Reference | Rs1057519275(T;T) |
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.73622063A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415538.1, |