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rs879255237

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255237(A;A)
Make rs879255237(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position150077763
GeneVPS45
is asnp
is mentioned by
dbSNPrs879255237
ebirs879255237
HLIrs879255237
Exacrs879255237
Varsomers879255237
Maprs879255237
PheGenIrs879255237
hapmaprs879255237
1000 genomesrs879255237
hgdprs879255237
ensemblrs879255237
gopubmedrs879255237
geneviewrs879255237
scholarrs879255237
googlers879255237
pharmgkbrs879255237
gwascentralrs879255237
openSNPrs879255237
23andMers879255237
23andMe allrs879255237
SNP Nexus

SNPshotrs879255237
SNPdbers879255237
MSV3drs879255237
GWAS Ctlgrs879255237
Max Magnitude0
ClinVar
Risk rs879255237(A;A)
Alt rs879255237(A;A)
Reference rs879255237(C;C)
Significance Pathogenic
Disease Severe congenital neutropenia 5
Variation info
Gene VPS45
CLNDBN Severe congenital neutropenia 5, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.150049841C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000049320.3,