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rs132630274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630274(C;C)
Make rs132630274(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48688331
GeneWAS
is asnp
is mentioned by
dbSNPrs132630274
ebirs132630274
HLIrs132630274
Exacrs132630274
Varsomers132630274
Maprs132630274
PheGenIrs132630274
hapmaprs132630274
1000 genomesrs132630274
hgdprs132630274
ensemblrs132630274
gopubmedrs132630274
geneviewrs132630274
scholarrs132630274
googlers132630274
pharmgkbrs132630274
gwascentralrs132630274
openSNPrs132630274
23andMers132630274
23andMe allrs132630274
SNP Nexus

SNPshotrs132630274
SNPdbers132630274
MSV3drs132630274
GWAS Ctlgrs132630274
Merged fromRs28936079
Max Magnitude0
OMIM300392
Desc
Variant0012
Relatedalso
ClinVar
Risk rs132630274(C;C)
Alt rs132630274(C;C)
Reference rs132630274(T;T)
Significance Pathogenic
Disease Severe congenital neutropenia X-linked
Variation info
Gene WAS
CLNDBN Severe congenital neutropenia X-linked
Reversed 0
HGVS NC_000023.10:g.48546720T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011874.2,