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rs137853972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGAACTACAGG;AGGAACTACAGG) 0 common in clinvar
Make rs137853972(-;-)
Make rs137853972(-;AGGAACTACAGG)
ReferenceGRCh38 38.1/141
Chromosome16
Position58019045
GeneC16orf57
is asnp
is mentioned by
dbSNPrs137853972
ebirs137853972
HLIrs137853972
Exacrs137853972
Varsomers137853972
Maprs137853972
PheGenIrs137853972
hapmaprs137853972
1000 genomesrs137853972
hgdprs137853972
ensemblrs137853972
gopubmedrs137853972
geneviewrs137853972
scholarrs137853972
googlers137853972
pharmgkbrs137853972
gwascentralrs137853972
openSNPrs137853972
23andMers137853972
23andMe allrs137853972
SNP Nexus

SNPshotrs137853972
SNPdbers137853972
MSV3drs137853972
GWAS Ctlgrs137853972
Max Magnitude0
OMIM613276
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853972(;)
Alt rs137853972(;)
Reference rs137853972(AGGAACTACAGG;AGGAACTACAGG)
Significance Pathogenic
Disease Poikiloderma with neutropenia
Variation info
Gene USB1
CLNDBN Poikiloderma with neutropenia
Reversed 0
HGVS NC_000016.9:g.58052949_58052960delAGGAACTACAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000225.3,


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