rs879255237
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255237(A;A) |
Make rs879255237(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 150077763 |
Gene | VPS45 |
is a | snp |
is | mentioned by |
dbSNP | rs879255237 |
dbSNP (classic) | rs879255237 |
ClinGen | rs879255237 |
ebi | rs879255237 |
HLI | rs879255237 |
Exac | rs879255237 |
Gnomad | rs879255237 |
Varsome | rs879255237 |
LitVar | rs879255237 |
Map | rs879255237 |
PheGenI | rs879255237 |
Biobank | rs879255237 |
1000 genomes | rs879255237 |
hgdp | rs879255237 |
ensembl | rs879255237 |
geneview | rs879255237 |
scholar | rs879255237 |
rs879255237 | |
pharmgkb | rs879255237 |
gwascentral | rs879255237 |
openSNP | rs879255237 |
23andMe | rs879255237 |
SNPshot | rs879255237 |
SNPdbe | rs879255237 |
MSV3d | rs879255237 |
GWAS Ctlg | rs879255237 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255237(A;A) |
Alt | rs879255237(A;A) |
Reference | Rs879255237(C;C) |
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.150049841C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049320.3, |