rs3813948
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs3813948(A;G) |
Make rs3813948(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 207096513 |
Gene | C4BPB |
is a | snp |
is | mentioned by |
dbSNP | rs3813948 |
dbSNP (classic) | rs3813948 |
ClinGen | rs3813948 |
ebi | rs3813948 |
HLI | rs3813948 |
Exac | rs3813948 |
Gnomad | rs3813948 |
Varsome | rs3813948 |
LitVar | rs3813948 |
Map | rs3813948 |
PheGenI | rs3813948 |
Biobank | rs3813948 |
1000 genomes | rs3813948 |
hgdp | rs3813948 |
ensembl | rs3813948 |
geneview | rs3813948 |
scholar | rs3813948 |
rs3813948 | |
pharmgkb | rs3813948 |
gwascentral | rs3813948 |
openSNP | rs3813948 |
23andMe | rs3813948 |
SNPshot | rs3813948 |
SNPdbe | rs3813948 |
MSV3d | rs3813948 |
GWAS Ctlg | rs3813948 |
GMAF | 0.1166 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 20212171] |
Trait | Plasma C4b binding protein levels |
Title | C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies |
Risk Allele | C |
P-val | 4E-10 |
Odds Ratio | None None |
ClinVar | |
---|---|
Risk | rs3813948(G;G) |
Alt | rs3813948(G;G) |
Reference | Rs3813948(A;A) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | C4BPB |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.207269858T>C |
CLNSRC | |
CLNACC | RCV000454757.1, |