rs104894515
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894515(A;A) |
Make rs104894515(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 88643474 |
Gene | CYBA |
is a | snp |
is | mentioned by |
dbSNP | rs104894515 |
dbSNP (classic) | rs104894515 |
ClinGen | rs104894515 |
ebi | rs104894515 |
HLI | rs104894515 |
Exac | rs104894515 |
Gnomad | rs104894515 |
Varsome | rs104894515 |
LitVar | rs104894515 |
Map | rs104894515 |
PheGenI | rs104894515 |
Biobank | rs104894515 |
1000 genomes | rs104894515 |
hgdp | rs104894515 |
ensembl | rs104894515 |
geneview | rs104894515 |
scholar | rs104894515 |
rs104894515 | |
pharmgkb | rs104894515 |
gwascentral | rs104894515 |
openSNP | rs104894515 |
23andMe | rs104894515 |
SNPshot | rs104894515 |
SNPdbe | rs104894515 |
MSV3d | rs104894515 |
GWAS Ctlg | rs104894515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894515(A;A) |
Alt | rs104894515(A;A) |
Reference | Rs104894515(C;C) |
Significance | Pathogenic |
Disease | Granulomatous disease Chronic granulomatous disease |
Variation | info |
Gene | CYBA |
CLNDBN | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Chronic granulomatous disease |
Reversed | 1 |
HGVS | NC_000016.9:g.88709882G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002348.2, RCV000208600.1, |