rs4770433
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs4770433(A;G) |
| Make rs4770433(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 23329652 |
| Gene | SACS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4770433 |
| dbSNP (classic) | rs4770433 |
| ClinGen | rs4770433 |
| ebi | rs4770433 |
| HLI | rs4770433 |
| Exac | rs4770433 |
| Gnomad | rs4770433 |
| Varsome | rs4770433 |
| LitVar | rs4770433 |
| Map | rs4770433 |
| PheGenI | rs4770433 |
| Biobank | rs4770433 |
| 1000 genomes | rs4770433 |
| hgdp | rs4770433 |
| ensembl | rs4770433 |
| geneview | rs4770433 |
| scholar | rs4770433 |
| rs4770433 | |
| pharmgkb | rs4770433 |
| gwascentral | rs4770433 |
| openSNP | rs4770433 |
| 23andMe | rs4770433 |
| SNPshot | rs4770433 |
| SNPdbe | rs4770433 |
| MSV3d | rs4770433 |
| GWAS Ctlg | rs4770433 |
| GMAF | 0.3549 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 18464913 ]
|
| Trait | Protein quantitative trait loci |
| Title | A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs) |
| Risk Allele | |
| P-val | 0.0000039999999999999998 |
| Odds Ratio | NR NR |
[PMID 18464913] Interleukin 12 (IL12) protein levels
| ClinVar | |
|---|---|
| Risk | rs4770433(G;G) |
| Alt | rs4770433(G;G) |
| Reference | Rs4770433(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Limb-Girdle Muscular Dystrophy Spastic ataxia Charlevoix-Saguenay type Severe autosomal recessive muscular dystrophy of childhood - North African type |
| Variation | info |
| Gene | SACS |
| CLNDBN | Limb-Girdle Muscular Dystrophy, Recessive Spastic ataxia Charlevoix-Saguenay type Severe autosomal recessive muscular dystrophy of childhood - North African type |
| Reversed | 0 |
| HGVS | NC_000013.10:g.23903791A>G |
| CLNSRC | |
| CLNACC | RCV000271293.1, RCV000315525.1, RCV000365800.1, |
