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rs587777731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGACGGCA;CCGACGGCA) 0 common in clinvar
(CGGCACCGA;CGGCACCGA) 0 common in clinvar
Make rs587777731(-;-)
Make rs587777731(-;CCGACGGCA)
ReferenceGRCh38 38.1/142
Chromosome3
Position9890757
GeneJAGN1
is asnp
is mentioned by
dbSNPrs587777731
dbSNP (old)rs587777731
ClinGenrs587777731
ebirs587777731
HLIrs587777731
Exacrs587777731
Gnomadrs587777731
Varsomers587777731
Maprs587777731
PheGenIrs587777731
Biobankrs587777731
1000 genomesrs587777731
hgdprs587777731
ensemblrs587777731
gopubmedrs587777731
geneviewrs587777731
scholarrs587777731
googlers587777731
pharmgkbrs587777731
gwascentralrs587777731
openSNPrs587777731
23andMers587777731
23andMe allrs587777731
SNP Nexus

SNPshotrs587777731
SNPdbers587777731
MSV3drs587777731
GWAS Ctlgrs587777731
Max Magnitude0
ClinVar
Risk rs587777731(-;-) Rs587777731(CGGCACCGA;CGGCACCGA)
Alt rs587777731(-;-) Rs587777731(CGGCACCGA;CGGCACCGA)
Reference Rs587777731(CCGACGGCA;CCGACGGCA)
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.9932441_9932449delCCGACGGCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000144166.3, RCV000170607.1,