rs121908428
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of an ACCPN neurological mutation |
| (T;T) | 6 | ACCPN neurological disorder |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 34243993 |
| Gene | SLC12A6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908428 |
| dbSNP (classic) | rs121908428 |
| ClinGen | rs121908428 |
| ebi | rs121908428 |
| HLI | rs121908428 |
| Exac | rs121908428 |
| Gnomad | rs121908428 |
| Varsome | rs121908428 |
| LitVar | rs121908428 |
| Map | rs121908428 |
| PheGenI | rs121908428 |
| Biobank | rs121908428 |
| 1000 genomes | rs121908428 |
| hgdp | rs121908428 |
| ensembl | rs121908428 |
| geneview | rs121908428 |
| scholar | rs121908428 |
| rs121908428 | |
| pharmgkb | rs121908428 |
| gwascentral | rs121908428 |
| openSNP | rs121908428 |
| 23andMe | rs121908428 |
| SNPshot | rs121908428 |
| SNPdbe | rs121908428 |
| MSV3d | rs121908428 |
| GWAS Ctlg | rs121908428 |
| Max Magnitude | 6 |
rs121908428, also known as R675X, is a SNP in the SLC12A6 gene.
The risk allele rs121908428(T) accounts for most of the ACCPN mutations seen in French-Canadian populations. Note that 23andMe reports this SNP from the opposite strand as dbSNP, so for their equivalent SNP, i5012575, the risk allele is (A).
| ClinVar | |
|---|---|
| Risk | Rs121908428(T;T) |
| Alt | Rs121908428(T;T) |
| Reference | Rs121908428(C;C) |
| Significance | Pathogenic |
| Disease | Andermann syndrome |
| Variation | info |
| Gene | SLC12A6 |
| CLNDBN | Andermann syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.34536194G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005653.3, |
