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rs587777729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777729(G;T)
Make rs587777729(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position9890785
GeneJAGN1
is asnp
is mentioned by
dbSNPrs587777729
ebirs587777729
HLIrs587777729
Exacrs587777729
Varsomers587777729
Maprs587777729
PheGenIrs587777729
hapmaprs587777729
1000 genomesrs587777729
hgdprs587777729
ensemblrs587777729
gopubmedrs587777729
geneviewrs587777729
scholarrs587777729
googlers587777729
pharmgkbrs587777729
gwascentralrs587777729
openSNPrs587777729
23andMers587777729
23andMe allrs587777729
SNP Nexus

SNPshotrs587777729
SNPdbers587777729
MSV3drs587777729
GWAS Ctlgrs587777729
Max Magnitude0
ClinVar
Risk rs587777729(T;T)
Alt rs587777729(T;T)
Reference rs587777729(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.9932469G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144164.2, RCV000170606.1,