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rs132630273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630273(C;T)
Make rs132630273(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48684284
GeneWAS
is asnp
is mentioned by
dbSNPrs132630273
dbSNP (classic)rs132630273
ClinGenrs132630273
ebirs132630273
HLIrs132630273
Exacrs132630273
Gnomadrs132630273
Varsomers132630273
LitVarrs132630273
Maprs132630273
PheGenIrs132630273
Biobankrs132630273
1000 genomesrs132630273
hgdprs132630273
ensemblrs132630273
geneviewrs132630273
scholarrs132630273
googlers132630273
pharmgkbrs132630273
gwascentralrs132630273
openSNPrs132630273
23andMers132630273
SNPshotrs132630273
SNPdbers132630273
MSV3drs132630273
GWAS Ctlgrs132630273
Max Magnitude0
OMIM300392
Desc
Variant0010
Relatedalso
ClinVar
Risk rs132630273(T;T)
Alt rs132630273(T;T)
Reference Rs132630273(C;C)
Significance Pathogenic
Disease Thrombocytopenia
Variation info
Gene WAS
CLNDBN Thrombocytopenia, X-linked
Reversed 0
HGVS NC_000023.10:g.48542673C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011872.2,