rs587777731

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCGACGGCA;CCGACGGCA)	0	common in clinvar
(CGGCACCGA;CGGCACCGA)	0	common in clinvar
(I;I)	0	common genotype

Make rs587777731(-;-)

Make rs587777731(-;CCGACGGCA)

Reference

GRCh38 38.1/142

Chromosome

3

Position

9890757

Gene

JAGN1

is a	snp
is	mentioned by
dbSNP	rs587777731
dbSNP (classic)	rs587777731
ClinGen	rs587777731
ebi	rs587777731
HLI	rs587777731
Exac	rs587777731
Gnomad	rs587777731
Varsome	rs587777731
LitVar	rs587777731
Map	rs587777731
PheGenI	rs587777731
Biobank	rs587777731
1000 genomes	rs587777731
hgdp	rs587777731
ensembl	rs587777731
geneview	rs587777731
scholar	rs587777731
google	rs587777731
pharmgkb	rs587777731
gwascentral	rs587777731
openSNP	rs587777731
23andMe	rs587777731
SNPshot	rs587777731
SNPdbe	rs587777731
MSV3d	rs587777731
GWAS Ctlg	rs587777731

Max Magnitude

0

ClinVar
Risk	rs587777731(-;-) Rs587777731(CGGCACCGA;CGGCACCGA)
Alt	rs587777731(-;-) Rs587777731(CGGCACCGA;CGGCACCGA)
Reference	Rs587777731(CCGACGGCA;CCGACGGCA)
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.9932441_9932449delCCGACGGCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144166.3, RCV000170607.1,