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rs786205704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205704(A;A)
Make rs786205704(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position9890762
GeneJAGN1
is asnp
is mentioned by
dbSNPrs786205704
dbSNP (classic)rs786205704
ClinGenrs786205704
ebirs786205704
HLIrs786205704
Exacrs786205704
Gnomadrs786205704
Varsomers786205704
LitVarrs786205704
Maprs786205704
PheGenIrs786205704
Biobankrs786205704
1000 genomesrs786205704
hgdprs786205704
ensemblrs786205704
geneviewrs786205704
scholarrs786205704
googlers786205704
pharmgkbrs786205704
gwascentralrs786205704
openSNPrs786205704
23andMers786205704
SNPshotrs786205704
SNPdbers786205704
MSV3drs786205704
GWAS Ctlgrs786205704
Max Magnitude0
ClinVar
Risk rs786205704(A;A)
Alt rs786205704(A;A)
Reference Rs786205704(G;G)
Significance Pathogenic
Disease Severe congenital neutropenia
Variation info
Gene JAGN1
CLNDBN Severe congenital neutropenia
Reversed 0
HGVS NC_000003.11:g.9932446G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000170603.1,