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rs132630271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630271(C;T)
Make rs132630271(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48683953
GeneWAS
is asnp
is mentioned by
dbSNPrs132630271
ebirs132630271
HLIrs132630271
Exacrs132630271
Varsomers132630271
Maprs132630271
PheGenIrs132630271
hapmaprs132630271
1000 genomesrs132630271
hgdprs132630271
ensemblrs132630271
gopubmedrs132630271
geneviewrs132630271
scholarrs132630271
googlers132630271
pharmgkbrs132630271
gwascentralrs132630271
openSNPrs132630271
23andMers132630271
23andMe allrs132630271
SNP Nexus

SNPshotrs132630271
SNPdbers132630271
MSV3drs132630271
GWAS Ctlgrs132630271
Max Magnitude0
OMIM300392
Desc
Variant0007
Relatedalso
ClinVar
Risk rs132630271(A,T;A,T)
Alt rs132630271(A,T;A,T)
Reference rs132630271(C;C)
Significance Pathogenic
Disease Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN Wiskott-Aldrich syndrome
Reversed 0
HGVS NC_000023.10:g.48542342C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011868.17,