rs104886456
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;T) | 4 | Fanconi anemia carrier |
| (T;T) | 5 | Fanconi Anemia (FANCC-related) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 95172033 |
| Gene | FANCC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104886456 |
| dbSNP (classic) | rs104886456 |
| ClinGen | rs104886456 |
| ebi | rs104886456 |
| HLI | rs104886456 |
| Exac | rs104886456 |
| Gnomad | rs104886456 |
| Varsome | rs104886456 |
| LitVar | rs104886456 |
| Map | rs104886456 |
| PheGenI | rs104886456 |
| Biobank | rs104886456 |
| 1000 genomes | rs104886456 |
| hgdp | rs104886456 |
| ensembl | rs104886456 |
| geneview | rs104886456 |
| scholar | rs104886456 |
| rs104886456 | |
| pharmgkb | rs104886456 |
| gwascentral | rs104886456 |
| openSNP | rs104886456 |
| 23andMe | rs104886456 |
| SNPshot | rs104886456 |
| SNPdbe | rs104886456 |
| MSV3d | rs104886456 |
| GWAS Ctlg | rs104886456 |
| Max Magnitude | 5 |
rs104886456, also known as IVS4+4A>T, is a SNP in the Fanconi anemia, complementation group C FANCC gene.
23andMe reports that this mutation is carried by approximately 1% of Ashkenazi Jews and is responsible for more than 99% of FANCC-related Fanconi anemia in this population. This same mutation is the most common cause of FANCC-related Fanconi anemia in Japan. The term 23andMe uses for this SNP is i4000336.
| ClinVar | |
|---|---|
| Risk | Rs104886456(T;T) |
| Alt | Rs104886456(T;T) |
| Reference | Rs104886456(A;A) |
| Significance | Pathogenic |
| Disease | Fanconi anemia not provided Fanconi anemia |
| Variation | info |
| Gene | FANCC |
| CLNDBN | Fanconi anemia, complementation group C not provided Fanconi anemia |
| Reversed | 1 |
| HGVS | NC_000009.11:g.97934315T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012825.5, RCV000115354.4, RCV000197192.4, |
