rs145040665
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs145040665(A;A) |
Make rs145040665(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 48686113 |
Gene | WAS |
is a | snp |
is | mentioned by |
dbSNP | rs145040665 |
dbSNP (classic) | rs145040665 |
ClinGen | rs145040665 |
ebi | rs145040665 |
HLI | rs145040665 |
Exac | rs145040665 |
Gnomad | rs145040665 |
Varsome | rs145040665 |
LitVar | rs145040665 |
Map | rs145040665 |
PheGenI | rs145040665 |
Biobank | rs145040665 |
1000 genomes | rs145040665 |
hgdp | rs145040665 |
ensembl | rs145040665 |
geneview | rs145040665 |
scholar | rs145040665 |
rs145040665 | |
pharmgkb | rs145040665 |
gwascentral | rs145040665 |
openSNP | rs145040665 |
23andMe | rs145040665 |
SNPshot | rs145040665 |
SNPdbe | rs145040665 |
MSV3d | rs145040665 |
GWAS Ctlg | rs145040665 |
GMAF | 0.0006046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145040665(A;A) |
Alt | rs145040665(A;A) |
Reference | Rs145040665(C;C) |
Significance | Other |
Disease | Thrombocytopenia not specified not provided |
Variation | info |
Gene | WAS |
CLNDBN | Thrombocytopenia, X-linked not specified not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.48544502C>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030596.1, RCV000122270.3, RCV000419963.1, |
[PMID 20173115] X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.