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rs28936382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28936382(A;G)
Make rs28936382(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position92476090
GeneGFI1
is asnp
is mentioned by
dbSNPrs28936382
dbSNP (classic)rs28936382
ClinGenrs28936382
ebirs28936382
HLIrs28936382
Exacrs28936382
Gnomadrs28936382
Varsomers28936382
LitVarrs28936382
Maprs28936382
PheGenIrs28936382
Biobankrs28936382
1000 genomesrs28936382
hgdprs28936382
ensemblrs28936382
geneviewrs28936382
scholarrs28936382
googlers28936382
pharmgkbrs28936382
gwascentralrs28936382
openSNPrs28936382
23andMers28936382
SNPshotrs28936382
SNPdbers28936382
MSV3drs28936382
GWAS Ctlgrs28936382
Max Magnitude0
OMIM600871
DescNEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
Variant0002
Relatedalso


ClinVar
Risk rs28936382(G;G)
Alt rs28936382(G;G)
Reference Rs28936382(A;A)
Significance Pathogenic
Disease Neutropenia
Variation info
Gene GFI1
CLNDBN Neutropenia, nonimmune chronic idiopathic, of adults
Reversed 1
HGVS NC_000001.10:g.92941647T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009279.2,