rs132630276
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs132630276(A;A) |
Make rs132630276(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 48689423 |
Gene | WAS |
is a | snp |
is | mentioned by |
dbSNP | rs132630276 |
dbSNP (classic) | rs132630276 |
ClinGen | rs132630276 |
ebi | rs132630276 |
HLI | rs132630276 |
Exac | rs132630276 |
Gnomad | rs132630276 |
Varsome | rs132630276 |
LitVar | rs132630276 |
Map | rs132630276 |
PheGenI | rs132630276 |
Biobank | rs132630276 |
1000 genomes | rs132630276 |
hgdp | rs132630276 |
ensembl | rs132630276 |
geneview | rs132630276 |
scholar | rs132630276 |
rs132630276 | |
pharmgkb | rs132630276 |
gwascentral | rs132630276 |
openSNP | rs132630276 |
23andMe | rs132630276 |
SNPshot | rs132630276 |
SNPdbe | rs132630276 |
MSV3d | rs132630276 |
GWAS Ctlg | rs132630276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs132630276(A;A) |
Alt | rs132630276(A;A) |
Reference | Rs132630276(T;T) |
Significance | Pathogenic |
Disease | Thrombocytopenia |
Variation | info |
Gene | WAS |
CLNDBN | Thrombocytopenia, X-linked, intermittent |
Reversed | 0 |
HGVS | NC_000023.10:g.48547812T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011876.18, |