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rs132630275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630275(C;G)
Make rs132630275(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48684323
GeneWAS
is asnp
is mentioned by
dbSNPrs132630275
ebirs132630275
HLIrs132630275
Exacrs132630275
Varsomers132630275
Maprs132630275
PheGenIrs132630275
hapmaprs132630275
1000 genomesrs132630275
hgdprs132630275
ensemblrs132630275
gopubmedrs132630275
geneviewrs132630275
scholarrs132630275
googlers132630275
pharmgkbrs132630275
gwascentralrs132630275
openSNPrs132630275
23andMers132630275
23andMe allrs132630275
SNP Nexus

SNPshotrs132630275
SNPdbers132630275
MSV3drs132630275
GWAS Ctlgrs132630275
Merged fromRs28935178
Max Magnitude0
OMIM300392
Desc
Variant0013
Relatedalso
ClinVar
Risk rs132630275(G;G)
Alt rs132630275(G;G)
Reference rs132630275(C;C)
Significance Pathogenic
Disease Thrombocytopenia
Variation info
Gene WAS
CLNDBN Thrombocytopenia, X-linked, intermittent
Reversed 0
HGVS NC_000023.10:g.48542712C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011875.6,