rs587777728
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777728(C;T) |
Make rs587777728(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 9892955 |
Gene | JAGN1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777728 |
dbSNP (classic) | rs587777728 |
ClinGen | rs587777728 |
ebi | rs587777728 |
HLI | rs587777728 |
Exac | rs587777728 |
Gnomad | rs587777728 |
Varsome | rs587777728 |
LitVar | rs587777728 |
Map | rs587777728 |
PheGenI | rs587777728 |
Biobank | rs587777728 |
1000 genomes | rs587777728 |
hgdp | rs587777728 |
ensembl | rs587777728 |
geneview | rs587777728 |
scholar | rs587777728 |
rs587777728 | |
pharmgkb | rs587777728 |
gwascentral | rs587777728 |
openSNP | rs587777728 |
23andMe | rs587777728 |
SNPshot | rs587777728 |
SNPdbe | rs587777728 |
MSV3d | rs587777728 |
GWAS Ctlg | rs587777728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777728(T;T) |
Alt | rs587777728(T;T) |
Reference | Rs587777728(C;C) |
Significance | Pathogenic |
Disease | Severe congenital neutropenia 6 Severe congenital neutropenia |
Variation | info |
Gene | JAGN1 |
CLNDBN | Severe congenital neutropenia 6, autosomal recessive Severe congenital neutropenia |
Reversed | 0 |
HGVS | NC_000003.11:g.9934639C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144163.2, RCV000170602.1, |