rs730880095
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880095(C;G) |
Make rs730880095(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 855955 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs730880095 |
dbSNP (classic) | rs730880095 |
ClinGen | rs730880095 |
ebi | rs730880095 |
HLI | rs730880095 |
Exac | rs730880095 |
Gnomad | rs730880095 |
Varsome | rs730880095 |
LitVar | rs730880095 |
Map | rs730880095 |
PheGenI | rs730880095 |
Biobank | rs730880095 |
1000 genomes | rs730880095 |
hgdp | rs730880095 |
ensembl | rs730880095 |
geneview | rs730880095 |
scholar | rs730880095 |
rs730880095 | |
pharmgkb | rs730880095 |
gwascentral | rs730880095 |
openSNP | rs730880095 |
23andMe | rs730880095 |
SNPshot | rs730880095 |
SNPdbe | rs730880095 |
MSV3d | rs730880095 |
GWAS Ctlg | rs730880095 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880095(G;G) |
Alt | rs730880095(G;G) |
Reference | Rs730880095(C;C) |
Significance | Probable-Pathogenic |
Disease | Cyclical neutropenia |
Variation | info |
Gene | ELANE |
CLNDBN | Cyclical neutropenia |
Reversed | 0 |
HGVS | NC_000019.9:g.855955C>G |
CLNSRC | |
CLNACC | RCV000157220.1, |