rs377708532
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs377708532(C;T) |
| Make rs377708532(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 21 |
| Position | 43066354 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377708532 |
| dbSNP (classic) | rs377708532 |
| ClinGen | rs377708532 |
| ebi | rs377708532 |
| HLI | rs377708532 |
| Exac | rs377708532 |
| Gnomad | rs377708532 |
| Varsome | rs377708532 |
| LitVar | rs377708532 |
| Map | rs377708532 |
| PheGenI | rs377708532 |
| Biobank | rs377708532 |
| 1000 genomes | rs377708532 |
| hgdp | rs377708532 |
| ensembl | rs377708532 |
| geneview | rs377708532 |
| scholar | rs377708532 |
| rs377708532 | |
| pharmgkb | rs377708532 |
| gwascentral | rs377708532 |
| openSNP | rs377708532 |
| 23andMe | rs377708532 |
| SNPshot | rs377708532 |
| SNPdbe | rs377708532 |
| MSV3d | rs377708532 |
| GWAS Ctlg | rs377708532 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs377708532(A;A) rs377708532(T;T) |
| Alt | rs377708532(A;A) rs377708532(T;T) |
| Reference | Rs377708532(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44486464C>T |
| CLNSRC | |
| CLNACC | RCV000493781.1, |
