rs587778340
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs587778340(-;-) |
Make rs587778340(-;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 22625326 |
Gene | FANCF, GAS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587778340 |
dbSNP (classic) | rs587778340 |
ClinGen | rs587778340 |
ebi | rs587778340 |
HLI | rs587778340 |
Exac | rs587778340 |
Gnomad | rs587778340 |
Varsome | rs587778340 |
LitVar | rs587778340 |
Map | rs587778340 |
PheGenI | rs587778340 |
Biobank | rs587778340 |
1000 genomes | rs587778340 |
hgdp | rs587778340 |
ensembl | rs587778340 |
geneview | rs587778340 |
scholar | rs587778340 |
rs587778340 | |
pharmgkb | rs587778340 |
gwascentral | rs587778340 |
openSNP | rs587778340 |
23andMe | rs587778340 |
SNPshot | rs587778340 |
SNPdbe | rs587778340 |
MSV3d | rs587778340 |
GWAS Ctlg | rs587778340 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778340(-;-) |
Alt | rs587778340(-;-) |
Reference | Rs587778340(CT;CT) |
Significance | Pathogenic |
Disease | Fanconi anemia not specified Fanconi anemia |
Variation | info |
Gene | FANCF |
CLNDBN | Fanconi anemia, complementation group F not specified Fanconi anemia |
Reversed | 1 |
HGVS | NC_000011.9:g.22646872_22646873delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006715.3, RCV000121020.1, RCV000342763.1, |