rs797045007
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045007(C;C) |
Make rs797045007(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 852380 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs797045007 |
dbSNP (classic) | rs797045007 |
ClinGen | rs797045007 |
ebi | rs797045007 |
HLI | rs797045007 |
Exac | rs797045007 |
Gnomad | rs797045007 |
Varsome | rs797045007 |
LitVar | rs797045007 |
Map | rs797045007 |
PheGenI | rs797045007 |
Biobank | rs797045007 |
1000 genomes | rs797045007 |
hgdp | rs797045007 |
ensembl | rs797045007 |
geneview | rs797045007 |
scholar | rs797045007 |
rs797045007 | |
pharmgkb | rs797045007 |
gwascentral | rs797045007 |
openSNP | rs797045007 |
23andMe | rs797045007 |
SNPshot | rs797045007 |
SNPdbe | rs797045007 |
MSV3d | rs797045007 |
GWAS Ctlg | rs797045007 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045007(C;C) |
Alt | rs797045007(C;C) |
Reference | Rs797045007(G;G) |
Significance | Probable-Pathogenic |
Disease | Cyclical neutropenia |
Variation | info |
Gene | ELANE |
CLNDBN | Cyclical neutropenia |
Reversed | 0 |
HGVS | NC_000019.9:g.852380G>C |
CLNSRC | |
CLNACC | RCV000190505.1, |