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rs28936381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28936381(A;G)
Make rs28936381(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position92476153
GeneGFI1
is asnp
is mentioned by
dbSNPrs28936381
ebirs28936381
HLIrs28936381
Exacrs28936381
Varsomers28936381
Maprs28936381
PheGenIrs28936381
hapmaprs28936381
1000 genomesrs28936381
hgdprs28936381
ensemblrs28936381
gopubmedrs28936381
geneviewrs28936381
scholarrs28936381
googlers28936381
pharmgkbrs28936381
gwascentralrs28936381
openSNPrs28936381
23andMers28936381
23andMe allrs28936381
SNP Nexus

SNPshotrs28936381
SNPdbers28936381
MSV3drs28936381
GWAS Ctlgrs28936381
Max Magnitude0
OMIM600871
DescNEUTROPENIA, CONGENITAL, AUTOSOMAL DOMINANT 2
Variant0001
Relatedalso
ClinVar
Risk rs28936381(G;G)
Alt rs28936381(G;G)
Reference rs28936381(A;A)
Significance Pathogenic
Disease Severe congenital neutropenia 2
Variation info
Gene GFI1
CLNDBN Severe congenital neutropenia 2, autosomal dominant
Reversed 1
HGVS NC_000001.10:g.92941710T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009278.2,