rs34315806
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs34315806(A;A) |
| Make rs34315806(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 3160307 |
| Gene | HTT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34315806 |
| dbSNP (classic) | rs34315806 |
| ClinGen | rs34315806 |
| ebi | rs34315806 |
| HLI | rs34315806 |
| Exac | rs34315806 |
| Gnomad | rs34315806 |
| Varsome | rs34315806 |
| LitVar | rs34315806 |
| Map | rs34315806 |
| PheGenI | rs34315806 |
| Biobank | rs34315806 |
| 1000 genomes | rs34315806 |
| hgdp | rs34315806 |
| ensembl | rs34315806 |
| geneview | rs34315806 |
| scholar | rs34315806 |
| rs34315806 | |
| pharmgkb | rs34315806 |
| gwascentral | rs34315806 |
| openSNP | rs34315806 |
| 23andMe | rs34315806 |
| SNPshot | rs34315806 |
| SNPdbe | rs34315806 |
| MSV3d | rs34315806 |
| GWAS Ctlg | rs34315806 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34315806(A;A) |
| Alt | rs34315806(A;A) |
| Reference | Rs34315806(G;G) |
| Significance | Pathogenic |
| Disease | LOPES-MACIEL-RODAN SYNDROME |
| Variation | info |
| Gene | HTT |
| CLNDBN | LOPES-MACIEL-RODAN SYNDROME |
| Reversed | 1 |
| HGVS | NC_000004.11:g.3162034C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000477735.1, |
