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rs137853970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853970(A;C)
Make rs137853970(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position58017332
GeneC16orf57
is asnp
is mentioned by
dbSNPrs137853970
ebirs137853970
HLIrs137853970
Exacrs137853970
Varsomers137853970
Maprs137853970
PheGenIrs137853970
hapmaprs137853970
1000 genomesrs137853970
hgdprs137853970
ensemblrs137853970
gopubmedrs137853970
geneviewrs137853970
scholarrs137853970
googlers137853970
pharmgkbrs137853970
gwascentralrs137853970
openSNPrs137853970
23andMers137853970
23andMe allrs137853970
SNP Nexus

SNPshotrs137853970
SNPdbers137853970
MSV3drs137853970
GWAS Ctlgrs137853970
Max Magnitude0
OMIM613276
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853970(C;C)
Alt rs137853970(C;C)
Reference rs137853970(A;A)
Significance Pathogenic
Disease Poikiloderma with neutropenia
Variation info
Gene USB1
CLNDBN Poikiloderma with neutropenia
Reversed 0
HGVS NC_000016.9:g.58051236A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000224.3,


[PMID 20004881OA-icon.png] Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.