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rs137853973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853973(A;A)
Make rs137853973(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position58002623
GeneC16orf57
is asnp
is mentioned by
dbSNPrs137853973
ebirs137853973
HLIrs137853973
Exacrs137853973
Varsomers137853973
Maprs137853973
PheGenIrs137853973
hapmaprs137853973
1000 genomesrs137853973
hgdprs137853973
ensemblrs137853973
gopubmedrs137853973
geneviewrs137853973
scholarrs137853973
googlers137853973
pharmgkbrs137853973
gwascentralrs137853973
openSNPrs137853973
23andMers137853973
23andMe allrs137853973
SNP Nexus

SNPshotrs137853973
SNPdbers137853973
MSV3drs137853973
GWAS Ctlgrs137853973
Max Magnitude0
ClinVar
Risk rs137853973(A;A)
Alt rs137853973(A;A)
Reference rs137853973(G;G)
Significance Untested
Disease Poikiloderma with neutropenia
Variation info
Gene ZNF319 USB1
CLNDBN Poikiloderma with neutropenia
Reversed 0
HGVS NC_000016.9:g.58036527G>A
CLNSRC ClinVar
CLNACC RCV000144431.1,


[PMID 20618321] Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.