rs2031640
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common on affy axiom data |
| Make rs2031640(A;T) |
| Make rs2031640(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 23355916 |
| Gene | SACS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2031640 |
| dbSNP (classic) | rs2031640 |
| ClinGen | rs2031640 |
| ebi | rs2031640 |
| HLI | rs2031640 |
| Exac | rs2031640 |
| Gnomad | rs2031640 |
| Varsome | rs2031640 |
| LitVar | rs2031640 |
| Map | rs2031640 |
| PheGenI | rs2031640 |
| Biobank | rs2031640 |
| 1000 genomes | rs2031640 |
| hgdp | rs2031640 |
| ensembl | rs2031640 |
| geneview | rs2031640 |
| scholar | rs2031640 |
| rs2031640 | |
| pharmgkb | rs2031640 |
| gwascentral | rs2031640 |
| openSNP | rs2031640 |
| 23andMe | rs2031640 |
| SNPshot | rs2031640 |
| SNPdbe | rs2031640 |
| MSV3d | rs2031640 |
| GWAS Ctlg | rs2031640 |
| GMAF | 0.0955 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2031640(T;T) |
| Alt | rs2031640(T;T) |
| Reference | Rs2031640(A;A) |
| Significance | Other |
| Disease | not specified Spastic ataxia Charlevoix-Saguenay type |
| Variation | info |
| Gene | SACS |
| CLNDBN | not specified Spastic ataxia Charlevoix-Saguenay type |
| Reversed | 0 |
| HGVS | NC_000013.10:g.23930055A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000118233.3, RCV000304888.1, |
