rs622082
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs622082(A;G) |
| Make rs622082(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 68936491 |
| Gene | IGHMBP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs622082 |
| dbSNP (classic) | rs622082 |
| ClinGen | rs622082 |
| ebi | rs622082 |
| HLI | rs622082 |
| Exac | rs622082 |
| Gnomad | rs622082 |
| Varsome | rs622082 |
| LitVar | rs622082 |
| Map | rs622082 |
| PheGenI | rs622082 |
| Biobank | rs622082 |
| 1000 genomes | rs622082 |
| hgdp | rs622082 |
| ensembl | rs622082 |
| geneview | rs622082 |
| scholar | rs622082 |
| rs622082 | |
| pharmgkb | rs622082 |
| gwascentral | rs622082 |
| openSNP | rs622082 |
| 23andMe | rs622082 |
| SNPshot | rs622082 |
| SNPdbe | rs622082 |
| MSV3d | rs622082 |
| GWAS Ctlg | rs622082 |
| GMAF | 0.2222 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 16111488
] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
| ClinVar | |
|---|---|
| Risk | rs622082(G;G) |
| Alt | rs622082(G;G) |
| Reference | Rs622082(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Spinal muscular atrophy |
| Variation | info |
| Gene | IGHMBP2 |
| CLNDBN | not specified Spinal muscular atrophy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.68703959A>G |
| CLNSRC | |
| CLNACC | RCV000241691.1, RCV000375910.1, |
