rs2228645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2228645(C;T) |
Make rs2228645(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 18539442 |
Gene | CACNB2, NSUN6 |
is a | snp |
is | mentioned by |
dbSNP | rs2228645 |
dbSNP (classic) | rs2228645 |
ClinGen | rs2228645 |
ebi | rs2228645 |
HLI | rs2228645 |
Exac | rs2228645 |
Gnomad | rs2228645 |
Varsome | rs2228645 |
LitVar | rs2228645 |
Map | rs2228645 |
PheGenI | rs2228645 |
Biobank | rs2228645 |
1000 genomes | rs2228645 |
hgdp | rs2228645 |
ensembl | rs2228645 |
geneview | rs2228645 |
scholar | rs2228645 |
rs2228645 | |
pharmgkb | rs2228645 |
gwascentral | rs2228645 |
openSNP | rs2228645 |
23andMe | rs2228645 |
SNPshot | rs2228645 |
SNPdbe | rs2228645 |
MSV3d | rs2228645 |
GWAS Ctlg | rs2228645 |
GMAF | 0.2172 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 23744328] [Association between CACNB2 gene polymorphisms and essential hypertension]
ClinVar | |
---|---|
Risk | rs2228645(A;A) rs2228645(T;T) |
Alt | rs2228645(A;A) rs2228645(T;T) |
Reference | Rs2228645(C;C) |
Significance | Probable-non-pathogenic |
Disease | Cardiovascular phenotype not specified Brugada syndrome |
Variation | info |
Gene | CACNB2 |
CLNDBN | Cardiovascular phenotype not specified Brugada syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.18828371C>T |
CLNSRC | |
CLNACC | RCV000250713.1, RCV000253602.1, RCV000272242.1, |