rs377294947
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs377294947(C;T) |
| Make rs377294947(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 95249227 |
| Gene | FANCC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377294947 |
| dbSNP (classic) | rs377294947 |
| ClinGen | rs377294947 |
| ebi | rs377294947 |
| HLI | rs377294947 |
| Exac | rs377294947 |
| Gnomad | rs377294947 |
| Varsome | rs377294947 |
| LitVar | rs377294947 |
| Map | rs377294947 |
| PheGenI | rs377294947 |
| Biobank | rs377294947 |
| 1000 genomes | rs377294947 |
| hgdp | rs377294947 |
| ensembl | rs377294947 |
| geneview | rs377294947 |
| scholar | rs377294947 |
| rs377294947 | |
| pharmgkb | rs377294947 |
| gwascentral | rs377294947 |
| openSNP | rs377294947 |
| 23andMe | rs377294947 |
| SNPshot | rs377294947 |
| SNPdbe | rs377294947 |
| MSV3d | rs377294947 |
| GWAS Ctlg | rs377294947 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs377294947(T;T) |
| Alt | rs377294947(T;T) |
| Reference | Rs377294947(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Fanconi anemia |
| Variation | info |
| Gene | FANCC |
| CLNDBN | Fanconi anemia, complementation group C |
| Reversed | 0 |
| HGVS | NC_000009.11:g.98011509C>T |
| CLNSRC | |
| CLNACC | RCV000169293.1, |
