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rs782269909

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs782269909(A;A)
Make rs782269909(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position150081366
GeneVPS45
is asnp
is mentioned by
dbSNPrs782269909
ebirs782269909
HLIrs782269909
Exacrs782269909
Varsomers782269909
Maprs782269909
PheGenIrs782269909
hapmaprs782269909
1000 genomesrs782269909
hgdprs782269909
ensemblrs782269909
gopubmedrs782269909
geneviewrs782269909
scholarrs782269909
googlers782269909
pharmgkbrs782269909
gwascentralrs782269909
openSNPrs782269909
23andMers782269909
23andMe allrs782269909
SNP Nexus

SNPshotrs782269909
SNPdbers782269909
MSV3drs782269909
GWAS Ctlgrs782269909
Max Magnitude0
ClinVar
Risk rs782269909(A;A)
Alt rs782269909(A;A)
Reference rs782269909(G;G)
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.150053448G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000049321.2,