rs104886458
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 5 | Fanconi anemia |
(C;T) | 3 | Carrier of a Fanconi anemia mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 95101723 |
Gene | C9orf3, FANCC |
is a | snp |
is | mentioned by |
dbSNP | rs104886458 |
dbSNP (classic) | rs104886458 |
ClinGen | rs104886458 |
ebi | rs104886458 |
HLI | rs104886458 |
Exac | rs104886458 |
Gnomad | rs104886458 |
Varsome | rs104886458 |
LitVar | rs104886458 |
Map | rs104886458 |
PheGenI | rs104886458 |
Biobank | rs104886458 |
1000 genomes | rs104886458 |
hgdp | rs104886458 |
ensembl | rs104886458 |
geneview | rs104886458 |
scholar | rs104886458 |
rs104886458 | |
pharmgkb | rs104886458 |
gwascentral | rs104886458 |
openSNP | rs104886458 |
23andMe | rs104886458 |
SNPshot | rs104886458 |
SNPdbe | rs104886458 |
MSV3d | rs104886458 |
GWAS Ctlg | rs104886458 |
Max Magnitude | 5 |
aka c.1661T>C (p.Leu554Pro or L554P)
ClinVar | |
---|---|
Risk | Rs104886458(C;C) |
Alt | Rs104886458(C;C) |
Reference | Rs104886458(T;T) |
Significance | Pathogenic |
Disease | Fanconi anemia not provided |
Variation | info |
Gene | FANCC |
CLNDBN | Fanconi anemia, complementation group C not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.97864005A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012823.4, RCV000058925.2, |