rs794726660
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAACA;AAACA) | 0 | common in clinvar |
Make rs794726660(-;-) |
Make rs794726660(-;AAACA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89742841 |
Gene | FANCA |
is a | snp |
is | mentioned by |
dbSNP | rs794726660 |
dbSNP (classic) | rs794726660 |
ClinGen | rs794726660 |
ebi | rs794726660 |
HLI | rs794726660 |
Exac | rs794726660 |
Gnomad | rs794726660 |
Varsome | rs794726660 |
LitVar | rs794726660 |
Map | rs794726660 |
PheGenI | rs794726660 |
Biobank | rs794726660 |
1000 genomes | rs794726660 |
hgdp | rs794726660 |
ensembl | rs794726660 |
geneview | rs794726660 |
scholar | rs794726660 |
rs794726660 | |
pharmgkb | rs794726660 |
gwascentral | rs794726660 |
openSNP | rs794726660 |
23andMe | rs794726660 |
SNPshot | rs794726660 |
SNPdbe | rs794726660 |
MSV3d | rs794726660 |
GWAS Ctlg | rs794726660 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726660(-;-) |
Alt | rs794726660(-;-) |
Reference | Rs794726660(AAACA;AAACA) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCA |
CLNDBN | Fanconi anemia, complementation group A |
Reversed | 1 |
HGVS | NC_000016.9:g.89809249_89809253delTGTTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003617.3, |