rs759947457
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC) | 0 | common in clinvar |
| Make rs759947457(-;-) |
| Make rs759947457(-;CTGATGTCCTGGCCCGCC) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 16 |
| Position | 74774580 |
| Gene | FA2H |
| is a | snp |
| is | mentioned by |
| dbSNP | rs759947457 |
| dbSNP (classic) | rs759947457 |
| ClinGen | rs759947457 |
| ebi | rs759947457 |
| HLI | rs759947457 |
| Exac | rs759947457 |
| Gnomad | rs759947457 |
| Varsome | rs759947457 |
| LitVar | rs759947457 |
| Map | rs759947457 |
| PheGenI | rs759947457 |
| Biobank | rs759947457 |
| 1000 genomes | rs759947457 |
| hgdp | rs759947457 |
| ensembl | rs759947457 |
| geneview | rs759947457 |
| scholar | rs759947457 |
| rs759947457 | |
| pharmgkb | rs759947457 |
| gwascentral | rs759947457 |
| openSNP | rs759947457 |
| 23andMe | rs759947457 |
| SNPshot | rs759947457 |
| SNPdbe | rs759947457 |
| MSV3d | rs759947457 |
| GWAS Ctlg | rs759947457 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs759947457(-;-) |
| Alt | rs759947457(-;-) |
| Reference | Rs759947457(CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 35 |
| Variation | info |
| Gene | FA2H |
| CLNDBN | Spastic paraplegia 35 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.74808478_74808495del18 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023856.4, |
