rs397507553
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
Make rs397507553(-;-) |
Make rs397507553(-;TCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 89740842 |
Gene | FANCA, ZNF276 |
is a | snp |
is | mentioned by |
dbSNP | rs397507553 |
dbSNP (classic) | rs397507553 |
ClinGen | rs397507553 |
ebi | rs397507553 |
HLI | rs397507553 |
Exac | rs397507553 |
Gnomad | rs397507553 |
Varsome | rs397507553 |
LitVar | rs397507553 |
Map | rs397507553 |
PheGenI | rs397507553 |
Biobank | rs397507553 |
1000 genomes | rs397507553 |
hgdp | rs397507553 |
ensembl | rs397507553 |
geneview | rs397507553 |
scholar | rs397507553 |
rs397507553 | |
pharmgkb | rs397507553 |
gwascentral | rs397507553 |
openSNP | rs397507553 |
23andMe | rs397507553 |
SNPshot | rs397507553 |
SNPdbe | rs397507553 |
MSV3d | rs397507553 |
GWAS Ctlg | rs397507553 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507553(-;-) |
Alt | rs397507553(-;-) |
Reference | Rs397507553(TCT;TCT) |
Significance | Pathogenic |
Disease | Fanconi anemia not specified Fanconi anemia not provided |
Variation | info |
Gene | ZNF276 FANCA |
CLNDBN | Fanconi anemia, complementation group A not specified Fanconi anemia not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.89807250_89807252delAGA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033896.2, RCV000120945.1, RCV000231918.1, RCV000485336.1, |