rs137852607
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137852607(A;A) |
| Make rs137852607(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 203225706 |
| Gene | CHIT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852607 |
| dbSNP (classic) | rs137852607 |
| ClinGen | rs137852607 |
| ebi | rs137852607 |
| HLI | rs137852607 |
| Exac | rs137852607 |
| Gnomad | rs137852607 |
| Varsome | rs137852607 |
| LitVar | rs137852607 |
| Map | rs137852607 |
| PheGenI | rs137852607 |
| Biobank | rs137852607 |
| 1000 genomes | rs137852607 |
| hgdp | rs137852607 |
| ensembl | rs137852607 |
| geneview | rs137852607 |
| scholar | rs137852607 |
| rs137852607 | |
| pharmgkb | rs137852607 |
| gwascentral | rs137852607 |
| openSNP | rs137852607 |
| 23andMe | rs137852607 |
| SNPshot | rs137852607 |
| SNPdbe | rs137852607 |
| MSV3d | rs137852607 |
| GWAS Ctlg | rs137852607 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852607(A;A) |
| Alt | rs137852607(A;A) |
| Reference | Rs137852607(G;G) |
| Significance | Other |
| Disease | Chitotriosidase deficiency |
| Variation | info |
| Gene | CHIT1 |
| CLNDBN | Chitotriosidase deficiency |
| Reversed | 1 |
| HGVS | NC_000001.10:g.203194834C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010133.4, |
