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, |