rs730880277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTCCGGGATTAGCGAACTTCCAG;TTCCGGGATTAGCGAACTTCCAG) | 0 | common in clinvar |
Make rs730880277(-;-) |
Make rs730880277(-;TTCCGGGATTAGCGAACTTCCAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 22625559 |
Gene | FANCF, GAS2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880277 |
dbSNP (classic) | rs730880277 |
ClinGen | rs730880277 |
ebi | rs730880277 |
HLI | rs730880277 |
Exac | rs730880277 |
Gnomad | rs730880277 |
Varsome | rs730880277 |
LitVar | rs730880277 |
Map | rs730880277 |
PheGenI | rs730880277 |
Biobank | rs730880277 |
1000 genomes | rs730880277 |
hgdp | rs730880277 |
ensembl | rs730880277 |
geneview | rs730880277 |
scholar | rs730880277 |
rs730880277 | |
pharmgkb | rs730880277 |
gwascentral | rs730880277 |
openSNP | rs730880277 |
23andMe | rs730880277 |
SNPshot | rs730880277 |
SNPdbe | rs730880277 |
MSV3d | rs730880277 |
GWAS Ctlg | rs730880277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880277(-;-) |
Alt | rs730880277(-;-) |
Reference | Rs730880277(TTCCGGGATTAGCGAACTTCCAG;TTCCGGGATTAGCGAACTTCCAG) |
Significance | Pathogenic |
Disease | Fanconi anemia Fanconi anemia |
Variation | info |
Gene | FANCF |
CLNDBN | Fanconi anemia, complementation group F Fanconi anemia |
Reversed | 1 |
HGVS | NC_000011.9:g.22647105_22647127del23 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006712.3, RCV000472440.1, |