rs4148943
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4148943(C;T) |
| Make rs4148943(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 72009749 |
| Gene | CHST3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4148943 |
| dbSNP (classic) | rs4148943 |
| ClinGen | rs4148943 |
| ebi | rs4148943 |
| HLI | rs4148943 |
| Exac | rs4148943 |
| Gnomad | rs4148943 |
| Varsome | rs4148943 |
| LitVar | rs4148943 |
| Map | rs4148943 |
| PheGenI | rs4148943 |
| Biobank | rs4148943 |
| 1000 genomes | rs4148943 |
| hgdp | rs4148943 |
| ensembl | rs4148943 |
| geneview | rs4148943 |
| scholar | rs4148943 |
| rs4148943 | |
| pharmgkb | rs4148943 |
| gwascentral | rs4148943 |
| openSNP | rs4148943 |
| 23andMe | rs4148943 |
| SNPshot | rs4148943 |
| SNPdbe | rs4148943 |
| MSV3d | rs4148943 |
| GWAS Ctlg | rs4148943 |
| GMAF | 0.3586 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4148943(T;T) |
| Alt | rs4148943(T;T) |
| Reference | Rs4148943(C;C) |
| Significance | Non-pathogenic |
| Disease | Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia Larsen syndrome |
| Variation | info |
| Gene | CHST3 |
| CLNDBN | Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia Larsen syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73769507C>T |
| CLNSRC | |
| CLNACC | RCV000292986.1, RCV000332720.1, RCV000350226.1, RCV000389635.1, |
[PMID 31539757] The role of single-nucleotide polymorphism (SNPs) in toxicity of induction chemotherapy based on cisplatin and paclitaxel in patients with advanced head and neck cancer.
