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rs587777727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777727(A;A)
Make rs587777727(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position9890725
GeneJAGN1
is asnp
is mentioned by
dbSNPrs587777727
ebirs587777727
HLIrs587777727
Exacrs587777727
Varsomers587777727
Maprs587777727
PheGenIrs587777727
hapmaprs587777727
1000 genomesrs587777727
hgdprs587777727
ensemblrs587777727
gopubmedrs587777727
geneviewrs587777727
scholarrs587777727
googlers587777727
pharmgkbrs587777727
gwascentralrs587777727
openSNPrs587777727
23andMers587777727
23andMe allrs587777727
SNP Nexus

SNPshotrs587777727
SNPdbers587777727
MSV3drs587777727
GWAS Ctlgrs587777727
Max Magnitude0
ClinVar
Risk rs587777727(A;A)
Alt rs587777727(A;A)
Reference rs587777727(G;G)
Significance Pathogenic
Disease Severe congenital neutropenia 6 Severe congenital neutropenia
Variation info
Gene JAGN1
CLNDBN Severe congenital neutropenia 6, autosomal recessive Severe congenital neutropenia
Reversed 0
HGVS NC_000003.11:g.9932409G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144162.2, RCV000170600.2,