rs191943709
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs191943709(A;G) |
| Make rs191943709(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 89758617 |
| Gene | FANCA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs191943709 |
| dbSNP (classic) | rs191943709 |
| ClinGen | rs191943709 |
| ebi | rs191943709 |
| HLI | rs191943709 |
| Exac | rs191943709 |
| Gnomad | rs191943709 |
| Varsome | rs191943709 |
| LitVar | rs191943709 |
| Map | rs191943709 |
| PheGenI | rs191943709 |
| Biobank | rs191943709 |
| 1000 genomes | rs191943709 |
| hgdp | rs191943709 |
| ensembl | rs191943709 |
| geneview | rs191943709 |
| scholar | rs191943709 |
| rs191943709 | |
| pharmgkb | rs191943709 |
| gwascentral | rs191943709 |
| openSNP | rs191943709 |
| 23andMe | rs191943709 |
| SNPshot | rs191943709 |
| SNPdbe | rs191943709 |
| MSV3d | rs191943709 |
| GWAS Ctlg | rs191943709 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs191943709(G;G) |
| Alt | rs191943709(G;G) |
| Reference | Rs191943709(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Inborn genetic diseases Fanconi anemia |
| Variation | info |
| Gene | FANCA |
| CLNDBN | Inborn genetic diseases Fanconi anemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89825025A>G |
| CLNSRC | |
| CLNACC | RCV000210699.1, RCV000458460.1, |
