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rs777966677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs777966677(A;A)
Make rs777966677(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position9890781
GeneJAGN1
is asnp
is mentioned by
dbSNPrs777966677
dbSNP (classic)rs777966677
ClinGenrs777966677
ebirs777966677
HLIrs777966677
Exacrs777966677
Gnomadrs777966677
Varsomers777966677
LitVarrs777966677
Maprs777966677
PheGenIrs777966677
Biobankrs777966677
1000 genomesrs777966677
hgdprs777966677
ensemblrs777966677
geneviewrs777966677
scholarrs777966677
googlers777966677
pharmgkbrs777966677
gwascentralrs777966677
openSNPrs777966677
23andMers777966677
SNPshotrs777966677
SNPdbers777966677
MSV3drs777966677
GWAS Ctlgrs777966677
Max Magnitude0
ClinVar
Risk rs777966677(A;A)
Alt rs777966677(A;A)
Reference Rs777966677(G;G)
Significance Pathogenic
Disease Severe congenital neutropenia
Variation info
Gene JAGN1
CLNDBN Severe congenital neutropenia
Reversed 0
HGVS NC_000003.11:g.9932465G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000170601.1,