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rs132630276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630276(A;A)
Make rs132630276(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48689423
GeneWAS
is asnp
is mentioned by
dbSNPrs132630276
dbSNP (classic)rs132630276
ClinGenrs132630276
ebirs132630276
HLIrs132630276
Exacrs132630276
Gnomadrs132630276
Varsomers132630276
LitVarrs132630276
Maprs132630276
PheGenIrs132630276
Biobankrs132630276
1000 genomesrs132630276
hgdprs132630276
ensemblrs132630276
geneviewrs132630276
scholarrs132630276
googlers132630276
pharmgkbrs132630276
gwascentralrs132630276
openSNPrs132630276
23andMers132630276
SNPshotrs132630276
SNPdbers132630276
MSV3drs132630276
GWAS Ctlgrs132630276
Max Magnitude0
OMIM300392
Desc
Variant0014
Relatedalso
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,