rs797046092
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs797046092(C;C) |
| Make rs797046092(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 2622191 |
| Gene | VLDLR, VLDLR-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797046092 |
| dbSNP (classic) | rs797046092 |
| ClinGen | rs797046092 |
| ebi | rs797046092 |
| HLI | rs797046092 |
| Exac | rs797046092 |
| Gnomad | rs797046092 |
| Varsome | rs797046092 |
| LitVar | rs797046092 |
| Map | rs797046092 |
| PheGenI | rs797046092 |
| Biobank | rs797046092 |
| 1000 genomes | rs797046092 |
| hgdp | rs797046092 |
| ensembl | rs797046092 |
| geneview | rs797046092 |
| scholar | rs797046092 |
| rs797046092 | |
| pharmgkb | rs797046092 |
| gwascentral | rs797046092 |
| openSNP | rs797046092 |
| 23andMe | rs797046092 |
| SNPshot | rs797046092 |
| SNPdbe | rs797046092 |
| MSV3d | rs797046092 |
| GWAS Ctlg | rs797046092 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797046092(C;C) |
| Alt | rs797046092(C;C) |
| Reference | Rs797046092(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| Variation | info |
| Gene | VLDLR-AS1 VLDLR |
| CLNDBN | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.2622191T>C |
| CLNSRC | |
| CLNACC | RCV000193524.1, |
