rs28941476
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28941476(A;A) |
Make rs28941476(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 88648103 |
Gene | CYBA |
is a | snp |
is | mentioned by |
dbSNP | rs28941476 |
dbSNP (classic) | rs28941476 |
ClinGen | rs28941476 |
ebi | rs28941476 |
HLI | rs28941476 |
Exac | rs28941476 |
Gnomad | rs28941476 |
Varsome | rs28941476 |
LitVar | rs28941476 |
Map | rs28941476 |
PheGenI | rs28941476 |
Biobank | rs28941476 |
1000 genomes | rs28941476 |
hgdp | rs28941476 |
ensembl | rs28941476 |
geneview | rs28941476 |
scholar | rs28941476 |
rs28941476 | |
pharmgkb | rs28941476 |
gwascentral | rs28941476 |
openSNP | rs28941476 |
23andMe | rs28941476 |
SNPshot | rs28941476 |
SNPdbe | rs28941476 |
MSV3d | rs28941476 |
GWAS Ctlg | rs28941476 |
Max Magnitude | 0 |
OMIM | 608508 |
Desc | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE |
Variant | 0010 |
Related | also |
ClinVar | |
---|---|
Risk | rs28941476(A;A) |
Alt | rs28941476(A;A) |
Reference | Rs28941476(G;G) |
Significance | Pathogenic |
Disease | Granulomatous disease |
Variation | info |
Gene | CYBA |
CLNDBN | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
Reversed | 1 |
HGVS | NC_000016.9:g.88714511C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002353.2, |