rs137853970

Orientation

plus

Stabilized

plus

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

Make rs137853970(A;C)

Make rs137853970(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

58017332

Gene

USB1

is a	snp
is	mentioned by
dbSNP	rs137853970
dbSNP (classic)	rs137853970
ClinGen	rs137853970
ebi	rs137853970
HLI	rs137853970
Exac	rs137853970
Gnomad	rs137853970
Varsome	rs137853970
LitVar	rs137853970
Map	rs137853970
PheGenI	rs137853970
Biobank	rs137853970
1000 genomes	rs137853970
hgdp	rs137853970
ensembl	rs137853970
geneview	rs137853970
scholar	rs137853970
google	rs137853970
pharmgkb	rs137853970
gwascentral	rs137853970
openSNP	rs137853970
23andMe	rs137853970
SNPshot	rs137853970
SNPdbe	rs137853970
MSV3d	rs137853970
GWAS Ctlg	rs137853970

Max Magnitude

0

OMIM	613276
Desc
Variant	0001
Related	also

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