rs879254329
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879254329(C;C) |
Make rs879254329(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 14865276 |
Gene | FANCB |
is a | snp |
is | mentioned by |
dbSNP | rs879254329 |
dbSNP (classic) | rs879254329 |
ClinGen | rs879254329 |
ebi | rs879254329 |
HLI | rs879254329 |
Exac | rs879254329 |
Gnomad | rs879254329 |
Varsome | rs879254329 |
LitVar | rs879254329 |
Map | rs879254329 |
PheGenI | rs879254329 |
Biobank | rs879254329 |
1000 genomes | rs879254329 |
hgdp | rs879254329 |
ensembl | rs879254329 |
geneview | rs879254329 |
scholar | rs879254329 |
rs879254329 | |
pharmgkb | rs879254329 |
gwascentral | rs879254329 |
openSNP | rs879254329 |
23andMe | rs879254329 |
SNPshot | rs879254329 |
SNPdbe | rs879254329 |
MSV3d | rs879254329 |
GWAS Ctlg | rs879254329 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879254329(C;C) |
Alt | rs879254329(C;C) |
Reference | Rs879254329(T;T) |
Significance | Probable-Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCB |
CLNDBN | Fanconi anemia |
Reversed | 1 |
HGVS | NC_000023.10:g.14883398A>G |
CLNSRC | |
CLNACC | RCV000235722.2, |