rs267606781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606781(G;T) |
Make rs267606781(T;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 19 |
Position | 853329 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs267606781 |
dbSNP (classic) | rs267606781 |
ClinGen | rs267606781 |
ebi | rs267606781 |
HLI | rs267606781 |
Exac | rs267606781 |
Gnomad | rs267606781 |
Varsome | rs267606781 |
LitVar | rs267606781 |
Map | rs267606781 |
PheGenI | rs267606781 |
Biobank | rs267606781 |
1000 genomes | rs267606781 |
hgdp | rs267606781 |
ensembl | rs267606781 |
geneview | rs267606781 |
scholar | rs267606781 |
rs267606781 | |
pharmgkb | rs267606781 |
gwascentral | rs267606781 |
openSNP | rs267606781 |
23andMe | rs267606781 |
SNPshot | rs267606781 |
SNPdbe | rs267606781 |
MSV3d | rs267606781 |
GWAS Ctlg | rs267606781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606781(T;T) |
Alt | rs267606781(T;T) |
Reference | Rs267606781(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.853329G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018231.28, |