rs138008832
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs138008832(G;T) |
| Make rs138008832(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 150123142 |
| Gene | PDGFRB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138008832 |
| dbSNP (classic) | rs138008832 |
| ClinGen | rs138008832 |
| ebi | rs138008832 |
| HLI | rs138008832 |
| Exac | rs138008832 |
| Gnomad | rs138008832 |
| Varsome | rs138008832 |
| LitVar | rs138008832 |
| Map | rs138008832 |
| PheGenI | rs138008832 |
| Biobank | rs138008832 |
| 1000 genomes | rs138008832 |
| hgdp | rs138008832 |
| ensembl | rs138008832 |
| geneview | rs138008832 |
| scholar | rs138008832 |
| rs138008832 | |
| pharmgkb | rs138008832 |
| gwascentral | rs138008832 |
| openSNP | rs138008832 |
| 23andMe | rs138008832 |
| SNPshot | rs138008832 |
| SNPdbe | rs138008832 |
| MSV3d | rs138008832 |
| GWAS Ctlg | rs138008832 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138008832(A;A) rs138008832(T;T) |
| Alt | rs138008832(A;A) rs138008832(T;T) |
| Reference | Rs138008832(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Basal ganglia calcification |
| Variation | info |
| Gene | PDGFRB |
| CLNDBN | Basal ganglia calcification, idiopathic, 4 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149502705G>A |
| CLNSRC | VariO |
| CLNACC | RCV000128554.2, |
