rs161400
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 0 | common in complete genomics |
| Make rs161400(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 3658102 |
| Gene | CTNS, LOC105371492 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs161400 |
| dbSNP (classic) | rs161400 |
| ClinGen | rs161400 |
| ebi | rs161400 |
| HLI | rs161400 |
| Exac | rs161400 |
| Gnomad | rs161400 |
| Varsome | rs161400 |
| LitVar | rs161400 |
| Map | rs161400 |
| PheGenI | rs161400 |
| Biobank | rs161400 |
| 1000 genomes | rs161400 |
| hgdp | rs161400 |
| ensembl | rs161400 |
| geneview | rs161400 |
| scholar | rs161400 |
| rs161400 | |
| pharmgkb | rs161400 |
| gwascentral | rs161400 |
| openSNP | rs161400 |
| 23andMe | rs161400 |
| SNPshot | rs161400 |
| SNPdbe | rs161400 |
| MSV3d | rs161400 |
| GWAS Ctlg | rs161400 |
| GMAF | 0.1598 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs161400(T;T) |
| Alt | Rs161400(T;T) |
| Reference | Rs161400(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Nephropathic cystinosis Cystinosis |
| Variation | info |
| Gene | CTNS |
| CLNDBN | not specified Nephropathic cystinosis Cystinosis |
| Reversed | 0 |
| HGVS | NC_000017.10:g.3561396C>T |
| CLNSRC | |
| CLNACC | RCV000248355.1, RCV000339531.1, RCV000380229.1, |
