Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853971(A;G)
Make rs137853971(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position58014325
GeneC16orf57
is asnp
is mentioned by
dbSNPrs137853971
ebirs137853971
HLIrs137853971
Exacrs137853971
Varsomers137853971
Maprs137853971
PheGenIrs137853971
hapmaprs137853971
1000 genomesrs137853971
hgdprs137853971
ensemblrs137853971
gopubmedrs137853971
geneviewrs137853971
scholarrs137853971
googlers137853971
pharmgkbrs137853971
gwascentralrs137853971
openSNPrs137853971
23andMers137853971
23andMe allrs137853971
SNP Nexus

SNPshotrs137853971
SNPdbers137853971
MSV3drs137853971
GWAS Ctlgrs137853971
Max Magnitude0
OMIM613276
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853971(G;G)
Alt rs137853971(G;G)
Reference rs137853971(A;A)
Significance Pathogenic
Disease Poikiloderma with neutropenia
Variation info
Gene USB1
CLNDBN Poikiloderma with neutropenia
Reversed 0
HGVS NC_000016.9:g.58048229A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000226.4,


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