rs786205705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205705(C;G) |
Make rs786205705(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 9893122 |
Gene | JAGN1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205705 |
dbSNP (classic) | rs786205705 |
ClinGen | rs786205705 |
ebi | rs786205705 |
HLI | rs786205705 |
Exac | rs786205705 |
Gnomad | rs786205705 |
Varsome | rs786205705 |
LitVar | rs786205705 |
Map | rs786205705 |
PheGenI | rs786205705 |
Biobank | rs786205705 |
1000 genomes | rs786205705 |
hgdp | rs786205705 |
ensembl | rs786205705 |
geneview | rs786205705 |
scholar | rs786205705 |
rs786205705 | |
pharmgkb | rs786205705 |
gwascentral | rs786205705 |
openSNP | rs786205705 |
23andMe | rs786205705 |
SNPshot | rs786205705 |
SNPdbe | rs786205705 |
MSV3d | rs786205705 |
GWAS Ctlg | rs786205705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205705(G;G) |
Alt | rs786205705(G;G) |
Reference | Rs786205705(C;C) |
Significance | Pathogenic |
Disease | Severe congenital neutropenia |
Variation | info |
Gene | JAGN1 |
CLNDBN | Severe congenital neutropenia |
Reversed | 0 |
HGVS | NC_000003.11:g.9934806C>G |
CLNSRC | |
CLNACC | RCV000170604.1, |