rs777966677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs777966677(A;A) |
Make rs777966677(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 9890781 |
Gene | JAGN1 |
is a | snp |
is | mentioned by |
dbSNP | rs777966677 |
dbSNP (classic) | rs777966677 |
ClinGen | rs777966677 |
ebi | rs777966677 |
HLI | rs777966677 |
Exac | rs777966677 |
Gnomad | rs777966677 |
Varsome | rs777966677 |
LitVar | rs777966677 |
Map | rs777966677 |
PheGenI | rs777966677 |
Biobank | rs777966677 |
1000 genomes | rs777966677 |
hgdp | rs777966677 |
ensembl | rs777966677 |
geneview | rs777966677 |
scholar | rs777966677 |
rs777966677 | |
pharmgkb | rs777966677 |
gwascentral | rs777966677 |
openSNP | rs777966677 |
23andMe | rs777966677 |
SNPshot | rs777966677 |
SNPdbe | rs777966677 |
MSV3d | rs777966677 |
GWAS Ctlg | rs777966677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777966677(A;A) |
Alt | rs777966677(A;A) |
Reference | Rs777966677(G;G) |
Significance | Pathogenic |
Disease | Severe congenital neutropenia |
Variation | info |
Gene | JAGN1 |
CLNDBN | Severe congenital neutropenia |
Reversed | 0 |
HGVS | NC_000003.11:g.9932465G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000170601.1, |