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rs786205705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205705(C;G)
Make rs786205705(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position9893122
GeneJAGN1
is asnp
is mentioned by
dbSNPrs786205705
dbSNP (classic)rs786205705
ClinGenrs786205705
ebirs786205705
HLIrs786205705
Exacrs786205705
Gnomadrs786205705
Varsomers786205705
LitVarrs786205705
Maprs786205705
PheGenIrs786205705
Biobankrs786205705
1000 genomesrs786205705
hgdprs786205705
ensemblrs786205705
geneviewrs786205705
scholarrs786205705
googlers786205705
pharmgkbrs786205705
gwascentralrs786205705
openSNPrs786205705
23andMers786205705
SNPshotrs786205705
SNPdbers786205705
MSV3drs786205705
GWAS Ctlgrs786205705
Max Magnitude0
ClinVar
Risk rs786205705(G;G)
Alt rs786205705(G;G)
Reference Rs786205705(C;C)
Significance Pathogenic
Disease Severe congenital neutropenia
Variation info
Gene JAGN1
CLNDBN Severe congenital neutropenia
Reversed 0
HGVS NC_000003.11:g.9934806C>G
CLNSRC
CLNACC RCV000170604.1,