rs387906808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906808(A;A) |
Make rs387906808(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 36867434 |
Gene | LOC107985578, NCF4 |
is a | snp |
is | mentioned by |
dbSNP | rs387906808 |
dbSNP (classic) | rs387906808 |
ClinGen | rs387906808 |
ebi | rs387906808 |
HLI | rs387906808 |
Exac | rs387906808 |
Gnomad | rs387906808 |
Varsome | rs387906808 |
LitVar | rs387906808 |
Map | rs387906808 |
PheGenI | rs387906808 |
Biobank | rs387906808 |
1000 genomes | rs387906808 |
hgdp | rs387906808 |
ensembl | rs387906808 |
geneview | rs387906808 |
scholar | rs387906808 |
rs387906808 | |
pharmgkb | rs387906808 |
gwascentral | rs387906808 |
openSNP | rs387906808 |
23andMe | rs387906808 |
SNPshot | rs387906808 |
SNPdbe | rs387906808 |
MSV3d | rs387906808 |
GWAS Ctlg | rs387906808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906808(A;A) rs387906808(C;C) rs387906808(T;T) |
Alt | rs387906808(A;A) rs387906808(C;C) rs387906808(T;T) |
Reference | Rs387906808(G;G) |
Significance | Pathogenic |
Disease | Granulomatous disease Chronic granulomatous disease |
Variation | info |
Gene | NCF4 |
CLNDBN | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III Chronic granulomatous disease |
Reversed | 0 |
HGVS | NC_000022.10:g.37263476G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023113.5, RCV000208606.1, |