rs1799810
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1799810(A;T) |
| Make rs1799810(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 127418464 |
| Gene | PROC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799810 |
| dbSNP (classic) | rs1799810 |
| ClinGen | rs1799810 |
| ebi | rs1799810 |
| HLI | rs1799810 |
| Exac | rs1799810 |
| Gnomad | rs1799810 |
| Varsome | rs1799810 |
| LitVar | rs1799810 |
| Map | rs1799810 |
| PheGenI | rs1799810 |
| Biobank | rs1799810 |
| 1000 genomes | rs1799810 |
| hgdp | rs1799810 |
| ensembl | rs1799810 |
| geneview | rs1799810 |
| scholar | rs1799810 |
| rs1799810 | |
| pharmgkb | rs1799810 |
| gwascentral | rs1799810 |
| openSNP | rs1799810 |
| 23andMe | rs1799810 |
| SNPshot | rs1799810 |
| SNPdbe | rs1799810 |
| MSV3d | rs1799810 |
| GWAS Ctlg | rs1799810 |
| GMAF | 0.3494 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20707712 ]
|
| Trait | |
| Title | A genome-wide association study of self-rated health |
| Risk Allele | T |
| P-val | 0.000009 |
| Odds Ratio | 0.02 [NR] unit decrease |
[PMID 20031567] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.
[PMID 24300144] [Phenotypic detection and structure analysis of a PC missense mutation (Met406Ile) resulted in venous thromboembolism]
| ClinVar | |
|---|---|
| Risk | rs1799810(T;T) |
| Alt | rs1799810(T;T) |
| Reference | Rs1799810(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Thrombophilia |
| Variation | info |
| Gene | PROC |
| CLNDBN | not specified Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000002.11:g.128176040A>T |
| CLNSRC | |
| CLNACC | RCV000246100.1, RCV000298504.1, |
