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rs387906553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906553(A;A)
Make rs387906553(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome19
Position853022
GeneELANE
is asnp
is mentioned by
dbSNPrs387906553
ebirs387906553
HLIrs387906553
Exacrs387906553
Varsomers387906553
Maprs387906553
PheGenIrs387906553
hapmaprs387906553
1000 genomesrs387906553
hgdprs387906553
ensemblrs387906553
gopubmedrs387906553
geneviewrs387906553
scholarrs387906553
googlers387906553
pharmgkbrs387906553
gwascentralrs387906553
openSNPrs387906553
23andMers387906553
23andMe allrs387906553
SNP Nexus

SNPshotrs387906553
SNPdbers387906553
MSV3drs387906553
GWAS Ctlgrs387906553
Max Magnitude0
ClinVar
Risk rs387906553(A;A)
Alt rs387906553(A;A)
Reference rs387906553(G;G)
Significance Pathogenic
Disease Severe congenital neutropenia autosomal dominant
Variation info
Gene ELANE
CLNDBN Severe congenital neutropenia autosomal dominant
Reversed 0
HGVS NC_000019.9:g.853022G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018228.27,