rs2297950
From SNPedia
| Polymorphism in AA102 of chitotriosidase (CHIT1) |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2297950(C;T) |
| Make rs2297950(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 203225058 |
| Gene | CHIT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2297950 |
| dbSNP (classic) | rs2297950 |
| ClinGen | rs2297950 |
| ebi | rs2297950 |
| HLI | rs2297950 |
| Exac | rs2297950 |
| Gnomad | rs2297950 |
| Varsome | rs2297950 |
| LitVar | rs2297950 |
| Map | rs2297950 |
| PheGenI | rs2297950 |
| Biobank | rs2297950 |
| 1000 genomes | rs2297950 |
| hgdp | rs2297950 |
| ensembl | rs2297950 |
| geneview | rs2297950 |
| scholar | rs2297950 |
| rs2297950 | |
| pharmgkb | rs2297950 |
| gwascentral | rs2297950 |
| openSNP | rs2297950 |
| 23andMe | rs2297950 |
| SNPshot | rs2297950 |
| SNPdbe | rs2297950 |
| MSV3d | rs2297950 |
| GWAS Ctlg | rs2297950 |
| GMAF | 0.3007 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Rs2297950 is a single nucleotide polymorphism at position 102 (Gly102Arg) in the chitotriosidase gene which results in chitotriosidase deficiency, implicated in altered defense against chitin containing organisms and in some inflammatory conditions such as inflammatory bowel disease and asthma.
| ClinVar | |
|---|---|
| Risk | rs2297950(T;T) |
| Alt | rs2297950(T;T) |
| Reference | Rs2297950(C;C) |
| Significance | Other |
| Disease | Chitotriosidase deficiency |
| Variation | info |
| Gene | CHIT1 |
| CLNDBN | Chitotriosidase deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.203194186C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010134.5, |
