rs137853972

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGGAACTACAGG;AGGAACTACAGG)	0	common in clinvar

Make rs137853972(-;-)

Make rs137853972(-;AGGAACTACAGG)

Reference

GRCh38 38.1/141

Chromosome

16

Position

58019045

Gene

USB1

is a	snp
is	mentioned by
dbSNP	rs137853972
dbSNP (classic)	rs137853972
ClinGen	rs137853972
ebi	rs137853972
HLI	rs137853972
Exac	rs137853972
Gnomad	rs137853972
Varsome	rs137853972
LitVar	rs137853972
Map	rs137853972
PheGenI	rs137853972
Biobank	rs137853972
1000 genomes	rs137853972
hgdp	rs137853972
ensembl	rs137853972
geneview	rs137853972
scholar	rs137853972
google	rs137853972
pharmgkb	rs137853972
gwascentral	rs137853972
openSNP	rs137853972
23andMe	rs137853972
SNPshot	rs137853972
SNPdbe	rs137853972
MSV3d	rs137853972
GWAS Ctlg	rs137853972

Max Magnitude

0

OMIM	613276
Desc
Variant	0002
Related	also

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 20004881] Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.