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rs587777730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777730(A;G)
Make rs587777730(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position9893310
GeneJAGN1
is asnp
is mentioned by
dbSNPrs587777730
ebirs587777730
HLIrs587777730
Exacrs587777730
Varsomers587777730
Maprs587777730
PheGenIrs587777730
hapmaprs587777730
1000 genomesrs587777730
hgdprs587777730
ensemblrs587777730
gopubmedrs587777730
geneviewrs587777730
scholarrs587777730
googlers587777730
pharmgkbrs587777730
gwascentralrs587777730
openSNPrs587777730
23andMers587777730
23andMe allrs587777730
SNP Nexus

SNPshotrs587777730
SNPdbers587777730
MSV3drs587777730
GWAS Ctlgrs587777730
Max Magnitude0
ClinVar
Risk rs587777730(G;G)
Alt rs587777730(G;G)
Reference rs587777730(A;A)
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.9934994A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144165.2, RCV000170605.1,