rs137854450
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 8.2 | Severe congenital neutropenia, type 1, autosomal dominant |
Make rs137854450(T;T) |
Reference | GRCh37.p5 37.3/135 |
Chromosome | 19 |
Position | 855574 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs137854450 |
dbSNP (classic) | rs137854450 |
ClinGen | rs137854450 |
ebi | rs137854450 |
HLI | rs137854450 |
Exac | rs137854450 |
Gnomad | rs137854450 |
Varsome | rs137854450 |
LitVar | rs137854450 |
Map | rs137854450 |
PheGenI | rs137854450 |
Biobank | rs137854450 |
1000 genomes | rs137854450 |
hgdp | rs137854450 |
ensembl | rs137854450 |
geneview | rs137854450 |
scholar | rs137854450 |
rs137854450 | |
pharmgkb | rs137854450 |
gwascentral | rs137854450 |
openSNP | rs137854450 |
23andMe | rs137854450 |
SNPshot | rs137854450 |
SNPdbe | rs137854450 |
MSV3d | rs137854450 |
GWAS Ctlg | rs137854450 |
Max Magnitude | 8.2 |
c.377C>T (p.Ser126Leu)
ClinVar | |
---|---|
Risk | rs137854450(A;A) rs137854450(T;T) |
Alt | rs137854450(A;A) rs137854450(T;T) |
Reference | Rs137854450(C;C) |
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.855574C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018229.28, |