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rs145040665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145040665(A;A)
Make rs145040665(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48686113
GeneWAS
is asnp
is mentioned by
dbSNPrs145040665
dbSNP (classic)rs145040665
ClinGenrs145040665
ebirs145040665
HLIrs145040665
Exacrs145040665
Gnomadrs145040665
Varsomers145040665
LitVarrs145040665
Maprs145040665
PheGenIrs145040665
Biobankrs145040665
1000 genomesrs145040665
hgdprs145040665
ensemblrs145040665
geneviewrs145040665
scholarrs145040665
googlers145040665
pharmgkbrs145040665
gwascentralrs145040665
openSNPrs145040665
23andMers145040665
SNPshotrs145040665
SNPdbers145040665
MSV3drs145040665
GWAS Ctlgrs145040665
GMAF0.0006046
Max Magnitude0
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.