rs587777728

Orientation

plus

Stabilized

plus

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

Make rs587777728(C;T)

Make rs587777728(T;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

9892955

Gene

JAGN1

is a	snp
is	mentioned by
dbSNP	rs587777728
dbSNP (classic)	rs587777728
ClinGen	rs587777728
ebi	rs587777728
HLI	rs587777728
Exac	rs587777728
Gnomad	rs587777728
Varsome	rs587777728
LitVar	rs587777728
Map	rs587777728
PheGenI	rs587777728
Biobank	rs587777728
1000 genomes	rs587777728
hgdp	rs587777728
ensembl	rs587777728
geneview	rs587777728
scholar	rs587777728
google	rs587777728
pharmgkb	rs587777728
gwascentral	rs587777728
openSNP	rs587777728
23andMe	rs587777728
SNPshot	rs587777728
SNPdbe	rs587777728
MSV3d	rs587777728
GWAS Ctlg	rs587777728

Max Magnitude

0

ClinVar
Risk	rs587777728(T;T)
Alt	rs587777728(T;T)
Reference	Rs587777728(C;C)
Significance	Pathogenic
Disease	Severe congenital neutropenia 6 Severe congenital neutropenia
Variation	info
Gene	JAGN1
CLNDBN	Severe congenital neutropenia 6, autosomal recessive Severe congenital neutropenia
Reversed	0
HGVS	NC_000003.11:g.9934639C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144163.2, RCV000170602.1,