rs864622188
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs864622188(-;-) |
Make rs864622188(-;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89810938 |
Gene | FANCA |
is a | snp |
is | mentioned by |
dbSNP | rs864622188 |
dbSNP (classic) | rs864622188 |
ClinGen | rs864622188 |
ebi | rs864622188 |
HLI | rs864622188 |
Exac | rs864622188 |
Gnomad | rs864622188 |
Varsome | rs864622188 |
LitVar | rs864622188 |
Map | rs864622188 |
PheGenI | rs864622188 |
Biobank | rs864622188 |
1000 genomes | rs864622188 |
hgdp | rs864622188 |
ensembl | rs864622188 |
geneview | rs864622188 |
scholar | rs864622188 |
rs864622188 | |
pharmgkb | rs864622188 |
gwascentral | rs864622188 |
openSNP | rs864622188 |
23andMe | rs864622188 |
SNPshot | rs864622188 |
SNPdbe | rs864622188 |
MSV3d | rs864622188 |
GWAS Ctlg | rs864622188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622188(-;-) |
Alt | rs864622188(-;-) |
Reference | Rs864622188(TG;TG) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCA |
CLNDBN | Fanconi anemia |
Reversed | 1 |
HGVS | NC_000016.9:g.89877346_89877347delCA |
CLNSRC | |
CLNACC | RCV000205897.1, |