rs119103271
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119103271(C;T) |
Make rs119103271(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 74779298 |
Gene | NCF1 |
is a | snp |
is | mentioned by |
dbSNP | rs119103271 |
dbSNP (classic) | rs119103271 |
ClinGen | rs119103271 |
ebi | rs119103271 |
HLI | rs119103271 |
Exac | rs119103271 |
Gnomad | rs119103271 |
Varsome | rs119103271 |
LitVar | rs119103271 |
Map | rs119103271 |
PheGenI | rs119103271 |
Biobank | rs119103271 |
1000 genomes | rs119103271 |
hgdp | rs119103271 |
ensembl | rs119103271 |
geneview | rs119103271 |
scholar | rs119103271 |
rs119103271 | |
pharmgkb | rs119103271 |
gwascentral | rs119103271 |
openSNP | rs119103271 |
23andMe | rs119103271 |
SNPshot | rs119103271 |
SNPdbe | rs119103271 |
MSV3d | rs119103271 |
GWAS Ctlg | rs119103271 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103271(T;T) |
Alt | rs119103271(T;T) |
Reference | Rs119103271(C;C) |
Significance | Pathogenic |
Disease | Chronic granulomatous disease |
Variation | info |
Gene | NCF1 |
CLNDBN | Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 |
Reversed | 0 |
HGVS | NC_000007.13:g.74193644C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002341.3, |