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rs132630272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630272(C;C)
Make rs132630272(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48684394
GeneWAS
is asnp
is mentioned by
dbSNPrs132630272
ebirs132630272
HLIrs132630272
Exacrs132630272
Varsomers132630272
Maprs132630272
PheGenIrs132630272
hapmaprs132630272
1000 genomesrs132630272
hgdprs132630272
ensemblrs132630272
gopubmedrs132630272
geneviewrs132630272
scholarrs132630272
googlers132630272
pharmgkbrs132630272
gwascentralrs132630272
openSNPrs132630272
23andMers132630272
23andMe allrs132630272
SNP Nexus

SNPshotrs132630272
SNPdbers132630272
MSV3drs132630272
GWAS Ctlgrs132630272
Max Magnitude0
OMIM300392
Desc
Variant0009
Relatedalso
ClinVar
Risk rs132630272(C;C)
Alt rs132630272(C;C)
Reference rs132630272(T;T)
Significance Pathogenic
Disease Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN Wiskott-Aldrich syndrome, attenuated
Reversed 0
HGVS NC_000023.10:g.48542783T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011871.6,