rs387906553
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 8.2 | Possible miscall in Ancestry v2 data; otherwise, severe congenital neutropenia, type 1, autosomal dominant |
| (G;G) | 0 | common in clinvar |
| Make rs387906553(A;A) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 19 |
| Position | 853022 |
| Gene | ELANE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906553 |
| dbSNP (classic) | rs387906553 |
| ClinGen | rs387906553 |
| ebi | rs387906553 |
| HLI | rs387906553 |
| Exac | rs387906553 |
| Gnomad | rs387906553 |
| Varsome | rs387906553 |
| LitVar | rs387906553 |
| Map | rs387906553 |
| PheGenI | rs387906553 |
| Biobank | rs387906553 |
| 1000 genomes | rs387906553 |
| hgdp | rs387906553 |
| ensembl | rs387906553 |
| geneview | rs387906553 |
| scholar | rs387906553 |
| rs387906553 | |
| pharmgkb | rs387906553 |
| gwascentral | rs387906553 |
| openSNP | rs387906553 |
| 23andMe | rs387906553 |
| SNPshot | rs387906553 |
| SNPdbe | rs387906553 |
| MSV3d | rs387906553 |
| GWAS Ctlg | rs387906553 |
| Max Magnitude | 8.2 |
c.214G>A (p.Val72Met); note that while c.214G>A was not observed in ExAC, c.214G>C (p.Val72Leu) was observed once, but it is reported to be a pathogenic mutation.
| ClinVar | |
|---|---|
| Risk | rs387906553(A;A) |
| Alt | rs387906553(A;A) |
| Reference | Rs387906553(G;G) |
| Significance | Pathogenic |
| Disease | Severe congenital neutropenia autosomal dominant |
| Variation | info |
| Gene | ELANE |
| CLNDBN | Severe congenital neutropenia autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000019.9:g.853022G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018228.28, |
