rs587777730

Orientation

plus

Stabilized

plus

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

Make rs587777730(A;G)

Make rs587777730(G;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

9893310

Gene

JAGN1

is a	snp
is	mentioned by
dbSNP	rs587777730
dbSNP (classic)	rs587777730
ClinGen	rs587777730
ebi	rs587777730
HLI	rs587777730
Exac	rs587777730
Gnomad	rs587777730
Varsome	rs587777730
LitVar	rs587777730
Map	rs587777730
PheGenI	rs587777730
Biobank	rs587777730
1000 genomes	rs587777730
hgdp	rs587777730
ensembl	rs587777730
geneview	rs587777730
scholar	rs587777730
google	rs587777730
pharmgkb	rs587777730
gwascentral	rs587777730
openSNP	rs587777730
23andMe	rs587777730
SNPshot	rs587777730
SNPdbe	rs587777730
MSV3d	rs587777730
GWAS Ctlg	rs587777730

Max Magnitude

0

ClinVar
Risk	rs587777730(G;G)
Alt	rs587777730(G;G)
Reference	Rs587777730(A;A)
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.9934994A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144165.2, RCV000170605.1,