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rs132630269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630269(C;T)
Make rs132630269(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48684317
GeneWAS
is asnp
is mentioned by
dbSNPrs132630269
ebirs132630269
HLIrs132630269
Exacrs132630269
Varsomers132630269
Maprs132630269
PheGenIrs132630269
hapmaprs132630269
1000 genomesrs132630269
hgdprs132630269
ensemblrs132630269
gopubmedrs132630269
geneviewrs132630269
scholarrs132630269
googlers132630269
pharmgkbrs132630269
gwascentralrs132630269
openSNPrs132630269
23andMers132630269
23andMe allrs132630269
SNP Nexus

SNPshotrs132630269
SNPdbers132630269
MSV3drs132630269
GWAS Ctlgrs132630269
Max Magnitude0
OMIM300392
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630269(T;T)
Alt rs132630269(T;T)
Reference rs132630269(C;C)
Significance Pathogenic
Disease Thrombocytopenia
Variation info
Gene WAS
CLNDBN Thrombocytopenia, X-linked
Reversed 0
HGVS NC_000023.10:g.48542706C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011865.17,