Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777728(C;T)
Make rs587777728(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position9892955
GeneJAGN1
is asnp
is mentioned by
dbSNPrs587777728
ebirs587777728
HLIrs587777728
Exacrs587777728
Varsomers587777728
Maprs587777728
PheGenIrs587777728
hapmaprs587777728
1000 genomesrs587777728
hgdprs587777728
ensemblrs587777728
gopubmedrs587777728
geneviewrs587777728
scholarrs587777728
googlers587777728
pharmgkbrs587777728
gwascentralrs587777728
openSNPrs587777728
23andMers587777728
23andMe allrs587777728
SNP Nexus

SNPshotrs587777728
SNPdbers587777728
MSV3drs587777728
GWAS Ctlgrs587777728
Max Magnitude0
ClinVar
Risk rs587777728(T;T)
Alt rs587777728(T;T)
Reference rs587777728(C;C)
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.9934639C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144163.2, RCV000170602.1,