rs606231475
From SNPedia
					| Orientation | minus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (CCACTGGAGCGACTGG;CCACTGGAGCGACTGG) | 0 | common in clinvar | 
| Make rs606231475(-;-) | 
| Make rs606231475(-;CCACTGGAGCGACTGG) | 
| Reference | GRCh38.p2 38.2/144 | 
| Chromosome | 1 | 
| Position | 36472272 | 
| Gene | CSF3R | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs606231475 | 
| dbSNP (classic) | rs606231475 | 
| ClinGen | rs606231475 | 
| ebi | rs606231475 | 
| HLI | rs606231475 | 
| Exac | rs606231475 | 
| Gnomad | rs606231475 | 
| Varsome | rs606231475 | 
| LitVar | rs606231475 | 
| Map | rs606231475 | 
| PheGenI | rs606231475 | 
| Biobank | rs606231475 | 
| 1000 genomes | rs606231475 | 
| hgdp | rs606231475 | 
| ensembl | rs606231475 | 
| geneview | rs606231475 | 
| scholar | rs606231475 | 
| rs606231475 | |
| pharmgkb | rs606231475 | 
| gwascentral | rs606231475 | 
| openSNP | rs606231475 | 
| 23andMe | rs606231475 | 
| SNPshot | rs606231475 | 
| SNPdbe | rs606231475 | 
| MSV3d | rs606231475 | 
| GWAS Ctlg | rs606231475 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs606231475(-;-) | 
| Alt | rs606231475(-;-) | 
| Reference | Rs606231475(CCACTGGAGCGACTGG;CCACTGGAGCGACTGG) | 
| Significance | Pathogenic | 
| Disease | Severe congenital neutropenia Neutropenia | 
| Variation | info | 
| Gene | CSF3R | 
| CLNDBN | Severe congenital neutropenia Neutropenia, severe congenital, 7, autosomal recessive | 
| Reversed | 1 | 
| HGVS | NC_000001.10:g.36937873_36937888del16 | 
| CLNSRC | OMIM Allelic Variant | 
| CLNACC | RCV000149409.1, RCV000234852.2, | 


