rs497116
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs497116(C;C) |
| Make rs497116(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 104892390 |
| Gene | CASP12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs497116 |
| dbSNP (classic) | rs497116 |
| ClinGen | rs497116 |
| ebi | rs497116 |
| HLI | rs497116 |
| Exac | rs497116 |
| Gnomad | rs497116 |
| Varsome | rs497116 |
| LitVar | rs497116 |
| Map | rs497116 |
| PheGenI | rs497116 |
| Biobank | rs497116 |
| 1000 genomes | rs497116 |
| hgdp | rs497116 |
| ensembl | rs497116 |
| geneview | rs497116 |
| scholar | rs497116 |
| rs497116 | |
| pharmgkb | rs497116 |
| gwascentral | rs497116 |
| openSNP | rs497116 |
| 23andMe | rs497116 |
| SNPshot | rs497116 |
| SNPdbe | rs497116 |
| MSV3d | rs497116 |
| GWAS Ctlg | rs497116 |
| GMAF | 0.03994 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22615879
] The loss of functional caspase-12 in europe is a pre-neolithic event.
[PMID 18852891] Distribution and effects of nonsense polymorphisms in human genes.
[PMID 19200524] A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.
[PMID 20210993] Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates.
| ClinVar | |
|---|---|
| Risk | Rs497116(T;T) |
| Alt | Rs497116(T;T) |
| Reference | rs497116(C;C) |
| Significance | Other |
| Disease | Sepsis not specified |
| Variation | info |
| Gene | CASP12 |
| CLNDBN | Sepsis, susceptibility to not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.104763117G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002255.2, RCV000454743.1, |
