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rs132630270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630270(C;G)
Make rs132630270(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48686928
GeneWAS
is asnp
is mentioned by
dbSNPrs132630270
dbSNP (classic)rs132630270
ClinGenrs132630270
ebirs132630270
HLIrs132630270
Exacrs132630270
Gnomadrs132630270
Varsomers132630270
LitVarrs132630270
Maprs132630270
PheGenIrs132630270
Biobankrs132630270
1000 genomesrs132630270
hgdprs132630270
ensemblrs132630270
geneviewrs132630270
scholarrs132630270
googlers132630270
pharmgkbrs132630270
gwascentralrs132630270
openSNPrs132630270
23andMers132630270
SNPshotrs132630270
SNPdbers132630270
MSV3drs132630270
GWAS Ctlgrs132630270
Max Magnitude0
OMIM300392
Desc
Variant0005
Relatedalso
ClinVar
Risk rs132630270(G;G)
Alt rs132630270(G;G)
Reference Rs132630270(C;C)
Significance Pathogenic
Disease Thrombocytopenia
Variation info
Gene WAS
CLNDBN Thrombocytopenia, X-linked
Reversed 0
HGVS NC_000023.10:g.48545317C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011866.2,