rs770318990
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs770318990(-;-) |
Make rs770318990(-;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 89307644 |
Gene | FANCI |
is a | snp |
is | mentioned by |
dbSNP | rs770318990 |
dbSNP (classic) | rs770318990 |
ClinGen | rs770318990 |
ebi | rs770318990 |
HLI | rs770318990 |
Exac | rs770318990 |
Gnomad | rs770318990 |
Varsome | rs770318990 |
LitVar | rs770318990 |
Map | rs770318990 |
PheGenI | rs770318990 |
Biobank | rs770318990 |
1000 genomes | rs770318990 |
hgdp | rs770318990 |
ensembl | rs770318990 |
geneview | rs770318990 |
scholar | rs770318990 |
rs770318990 | |
pharmgkb | rs770318990 |
gwascentral | rs770318990 |
openSNP | rs770318990 |
23andMe | rs770318990 |
SNPshot | rs770318990 |
SNPdbe | rs770318990 |
MSV3d | rs770318990 |
GWAS Ctlg | rs770318990 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770318990(-;-) |
Alt | rs770318990(-;-) |
Reference | Rs770318990(TG;TG) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCI |
CLNDBN | Fanconi anemia |
Reversed | 0 |
HGVS | NC_000015.9:g.89850875_89850876delTG |
CLNSRC | |
CLNACC | RCV000203795.1, |