rs515726215
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6 | ACCPN neurological disorder |
| (-;C) | 3 | carrier of an ACCPN neurological mutation |
| (C;C) | 0 | common/normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 34240661 |
| Gene | SLC12A6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726215 |
| dbSNP (classic) | rs515726215 |
| ClinGen | rs515726215 |
| ebi | rs515726215 |
| HLI | rs515726215 |
| Exac | rs515726215 |
| Gnomad | rs515726215 |
| Varsome | rs515726215 |
| LitVar | rs515726215 |
| Map | rs515726215 |
| PheGenI | rs515726215 |
| Biobank | rs515726215 |
| 1000 genomes | rs515726215 |
| hgdp | rs515726215 |
| ensembl | rs515726215 |
| geneview | rs515726215 |
| scholar | rs515726215 |
| rs515726215 | |
| pharmgkb | rs515726215 |
| gwascentral | rs515726215 |
| openSNP | rs515726215 |
| 23andMe | rs515726215 |
| SNPshot | rs515726215 |
| SNPdbe | rs515726215 |
| MSV3d | rs515726215 |
| GWAS Ctlg | rs515726215 |
| Max Magnitude | 6 |
Agenesis of the Corpus Callosum with Peripheral Neuropathy
23andMe name: i5012573
| ClinVar | |
|---|---|
| Risk | Rs515726215(-;-) |
| Alt | Rs515726215(-;-) |
| Reference | Rs515726215(C;C) |
| Significance | Pathogenic |
| Disease | Andermann syndrome |
| Variation | info |
| Gene | SLC12A6 |
| CLNDBN | Andermann syndrome |
| Reversed | 0 |
| HGVS | NC_000015.9:g.34532862delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005650.5, |
