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rs387906716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906716(C;C)
Make rs387906716(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48688336
GeneWAS
is asnp
is mentioned by
dbSNPrs387906716
ebirs387906716
HLIrs387906716
Exacrs387906716
Varsomers387906716
Maprs387906716
PheGenIrs387906716
hapmaprs387906716
1000 genomesrs387906716
hgdprs387906716
ensemblrs387906716
gopubmedrs387906716
geneviewrs387906716
scholarrs387906716
googlers387906716
pharmgkbrs387906716
gwascentralrs387906716
openSNPrs387906716
23andMers387906716
23andMe allrs387906716
SNP Nexus

SNPshotrs387906716
SNPdbers387906716
MSV3drs387906716
GWAS Ctlgrs387906716
Max Magnitude0
ClinVar
Risk rs387906716(C;C)
Alt rs387906716(C;C)
Reference rs387906716(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.48546725T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022858.5,