rs397507560
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CTGGATCCGT;CTGGATCCGT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TGGATCCGTC;TGGATCCGTC) | 0 | common in clinvar |
| Make rs397507560(-;-) |
| Make rs397507560(-;CTGGATCCGT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 35074174 |
| Gene | FANCG, VCP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507560 |
| dbSNP (classic) | rs397507560 |
| ClinGen | rs397507560 |
| ebi | rs397507560 |
| HLI | rs397507560 |
| Exac | rs397507560 |
| Gnomad | rs397507560 |
| Varsome | rs397507560 |
| LitVar | rs397507560 |
| Map | rs397507560 |
| PheGenI | rs397507560 |
| Biobank | rs397507560 |
| 1000 genomes | rs397507560 |
| hgdp | rs397507560 |
| ensembl | rs397507560 |
| geneview | rs397507560 |
| scholar | rs397507560 |
| rs397507560 | |
| pharmgkb | rs397507560 |
| gwascentral | rs397507560 |
| openSNP | rs397507560 |
| 23andMe | rs397507560 |
| SNPshot | rs397507560 |
| SNPdbe | rs397507560 |
| MSV3d | rs397507560 |
| GWAS Ctlg | rs397507560 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs397507560(TGGATCCGTC;TGGATCCGTC) rs397507560(-;-) |
| Alt | Rs397507560(TGGATCCGTC;TGGATCCGTC) rs397507560(-;-) |
| Reference | Rs397507560(CTGGATCCGT;CTGGATCCGT) |
| Significance | Pathogenic |
| Disease | Fanconi anemia |
| Variation | info |
| Gene | VCP FANCG |
| CLNDBN | Fanconi anemia, complementation group G |
| Reversed | 1 |
| HGVS | NC_000009.11:g.35074171_35074180delACGGATCCAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007110.3, |
