rs104894221
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894221(C;T) |
Make rs104894221(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 22625795 |
Gene | FANCF, GAS2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894221 |
dbSNP (classic) | rs104894221 |
ClinGen | rs104894221 |
ebi | rs104894221 |
HLI | rs104894221 |
Exac | rs104894221 |
Gnomad | rs104894221 |
Varsome | rs104894221 |
LitVar | rs104894221 |
Map | rs104894221 |
PheGenI | rs104894221 |
Biobank | rs104894221 |
1000 genomes | rs104894221 |
hgdp | rs104894221 |
ensembl | rs104894221 |
geneview | rs104894221 |
scholar | rs104894221 |
rs104894221 | |
pharmgkb | rs104894221 |
gwascentral | rs104894221 |
openSNP | rs104894221 |
23andMe | rs104894221 |
SNPshot | rs104894221 |
SNPdbe | rs104894221 |
MSV3d | rs104894221 |
GWAS Ctlg | rs104894221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894221(G;G) rs104894221(T;T) |
Alt | rs104894221(G;G) rs104894221(T;T) |
Reference | Rs104894221(C;C) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCF |
CLNDBN | Fanconi anemia, complementation group F |
Reversed | 1 |
HGVS | NC_000011.9:g.22647341G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006714.3, |