Have questions? Visit https://www.reddit.com/r/SNPedia

rs132630268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630268(G;T)
Make rs132630268(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48684407
GeneWAS
is asnp
is mentioned by
dbSNPrs132630268
ebirs132630268
HLIrs132630268
Exacrs132630268
Varsomers132630268
Maprs132630268
PheGenIrs132630268
hapmaprs132630268
1000 genomesrs132630268
hgdprs132630268
ensemblrs132630268
gopubmedrs132630268
geneviewrs132630268
scholarrs132630268
googlers132630268
pharmgkbrs132630268
gwascentralrs132630268
openSNPrs132630268
23andMers132630268
23andMe allrs132630268
SNP Nexus

SNPshotrs132630268
SNPdbers132630268
MSV3drs132630268
GWAS Ctlgrs132630268
Max Magnitude0
OMIM300392
Desc
Variant0002
Relatedalso
OMIM300392
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630268(A,T;A,T)
Alt rs132630268(A,T;A,T)
Reference rs132630268(G;G)
Significance Pathogenic
Disease Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN Wiskott-Aldrich syndrome
Reversed 0
HGVS NC_000023.10:g.48542796G>A; NC_000023.10:g.48542796G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011864.5, RCV000011863.17,