rs730880278
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAG;CCCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAG) | 0 | common in clinvar |
(CGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCC;CGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCC) | 0 | common in clinvar |
Make rs730880278(-;-) |
Make rs730880278(-;CCCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 22625416 |
Gene | FANCF, GAS2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880278 |
dbSNP (classic) | rs730880278 |
ClinGen | rs730880278 |
ebi | rs730880278 |
HLI | rs730880278 |
Exac | rs730880278 |
Gnomad | rs730880278 |
Varsome | rs730880278 |
LitVar | rs730880278 |
Map | rs730880278 |
PheGenI | rs730880278 |
Biobank | rs730880278 |
1000 genomes | rs730880278 |
hgdp | rs730880278 |
ensembl | rs730880278 |
geneview | rs730880278 |
scholar | rs730880278 |
rs730880278 | |
pharmgkb | rs730880278 |
gwascentral | rs730880278 |
openSNP | rs730880278 |
23andMe | rs730880278 |
SNPshot | rs730880278 |
SNPdbe | rs730880278 |
MSV3d | rs730880278 |
GWAS Ctlg | rs730880278 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs730880278(CGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCC;CGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCC) rs730880278(-;-) |
Alt | Rs730880278(CGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCC;CGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAGCC) rs730880278(-;-) |
Reference | Rs730880278(CCCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAG;CCCGGCCCGGGCGTCCGGGACGCCGATGAGGAGACACTCCAAGAGAG) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCF |
CLNDBN | Fanconi anemia, complementation group F |
Reversed | 1 |
HGVS | NC_000011.9:g.22646962_22647008del47 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006713.5, |