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rs387906717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906717(C;C)
Make rs387906717(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48688403
GeneWAS
is asnp
is mentioned by
dbSNPrs387906717
ebirs387906717
HLIrs387906717
Exacrs387906717
Varsomers387906717
Maprs387906717
PheGenIrs387906717
hapmaprs387906717
1000 genomesrs387906717
hgdprs387906717
ensemblrs387906717
gopubmedrs387906717
geneviewrs387906717
scholarrs387906717
googlers387906717
pharmgkbrs387906717
gwascentralrs387906717
openSNPrs387906717
23andMers387906717
23andMe allrs387906717
SNP Nexus

SNPshotrs387906717
SNPdbers387906717
MSV3drs387906717
GWAS Ctlgrs387906717
Max Magnitude0
ClinVar
Risk rs387906717(C;C)
Alt rs387906717(C;C)
Reference rs387906717(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.48546792T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022859.2,