rs145522851
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Possible association with spinocerebellar ataxia |
| Make rs145522851(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 66685935 |
| Gene | SPTBN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145522851 |
| dbSNP (classic) | rs145522851 |
| ClinGen | rs145522851 |
| ebi | rs145522851 |
| HLI | rs145522851 |
| Exac | rs145522851 |
| Gnomad | rs145522851 |
| Varsome | rs145522851 |
| LitVar | rs145522851 |
| Map | rs145522851 |
| PheGenI | rs145522851 |
| Biobank | rs145522851 |
| 1000 genomes | rs145522851 |
| hgdp | rs145522851 |
| ensembl | rs145522851 |
| geneview | rs145522851 |
| scholar | rs145522851 |
| rs145522851 | |
| pharmgkb | rs145522851 |
| gwascentral | rs145522851 |
| openSNP | rs145522851 |
| 23andMe | rs145522851 |
| SNPshot | rs145522851 |
| SNPdbe | rs145522851 |
| MSV3d | rs145522851 |
| GWAS Ctlg | rs145522851 |
| Max Magnitude | 3 |
aka R2370H
Classified by ACMG guidelines as of "uncertain significance" for a form of spinocerebellar ataxia; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so is tagged as likely to be pathogenic.
