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rs786205051

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205051(-;-)
Make rs786205051(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position58002559
GeneUSB1, ZNF319
is asnp
is mentioned by
dbSNPrs786205051
ebirs786205051
HLIrs786205051
Exacrs786205051
Varsomers786205051
Maprs786205051
PheGenIrs786205051
hapmaprs786205051
1000 genomesrs786205051
hgdprs786205051
ensemblrs786205051
gopubmedrs786205051
geneviewrs786205051
scholarrs786205051
googlers786205051
pharmgkbrs786205051
gwascentralrs786205051
openSNPrs786205051
23andMers786205051
23andMe allrs786205051
SNP Nexus

SNPshotrs786205051
SNPdbers786205051
MSV3drs786205051
GWAS Ctlgrs786205051
Max Magnitude0
ClinVar
Risk rs786205051(;)
Alt rs786205051(;)
Reference rs786205051(C;C)
Significance Pathogenic
Disease Poikiloderma with neutropenia
Variation info
Gene ZNF319 USB1
CLNDBN Poikiloderma with neutropenia
Reversed 0
HGVS NC_000016.9:g.58036463delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000227.4,