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rs797045009

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045009(A;A)
Make rs797045009(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position855758
GeneELANE
is asnp
is mentioned by
dbSNPrs797045009
ebirs797045009
HLIrs797045009
Exacrs797045009
Varsomers797045009
Maprs797045009
PheGenIrs797045009
hapmaprs797045009
1000 genomesrs797045009
hgdprs797045009
ensemblrs797045009
gopubmedrs797045009
geneviewrs797045009
scholarrs797045009
googlers797045009
pharmgkbrs797045009
gwascentralrs797045009
openSNPrs797045009
23andMers797045009
23andMe allrs797045009
SNP Nexus

SNPshotrs797045009
SNPdbers797045009
MSV3drs797045009
GWAS Ctlgrs797045009
Max Magnitude0
ClinVar
Risk rs797045009(A;A)
Alt rs797045009(A;A)
Reference rs797045009(C;C)
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.855758C>A
CLNSRC
CLNACC RCV000190507.1,