rs782269909
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs782269909(A;A) |
Make rs782269909(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 150081366 |
Gene | VPS45 |
is a | snp |
is | mentioned by |
dbSNP | rs782269909 |
dbSNP (classic) | rs782269909 |
ClinGen | rs782269909 |
ebi | rs782269909 |
HLI | rs782269909 |
Exac | rs782269909 |
Gnomad | rs782269909 |
Varsome | rs782269909 |
LitVar | rs782269909 |
Map | rs782269909 |
PheGenI | rs782269909 |
Biobank | rs782269909 |
1000 genomes | rs782269909 |
hgdp | rs782269909 |
ensembl | rs782269909 |
geneview | rs782269909 |
scholar | rs782269909 |
rs782269909 | |
pharmgkb | rs782269909 |
gwascentral | rs782269909 |
openSNP | rs782269909 |
23andMe | rs782269909 |
SNPshot | rs782269909 |
SNPdbe | rs782269909 |
MSV3d | rs782269909 |
GWAS Ctlg | rs782269909 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782269909(A;A) |
Alt | rs782269909(A;A) |
Reference | Rs782269909(G;G) |
Significance | Pathogenic |
Disease | Severe congenital neutropenia 5 |
Variation | info |
Gene | VPS45 |
CLNDBN | Severe congenital neutropenia 5, autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.150053448G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049321.2, |