rs797045009

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	8.2	Severe congenital neutropenia, type 1, autosomal dominant
(C;C)	0	common in clinvar

Make rs797045009(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

855758

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs797045009
dbSNP (classic)	rs797045009
ClinGen	rs797045009
ebi	rs797045009
HLI	rs797045009
Exac	rs797045009
Gnomad	rs797045009
Varsome	rs797045009
LitVar	rs797045009
Map	rs797045009
PheGenI	rs797045009
Biobank	rs797045009
1000 genomes	rs797045009
hgdp	rs797045009
ensembl	rs797045009
geneview	rs797045009
scholar	rs797045009
google	rs797045009
pharmgkb	rs797045009
gwascentral	rs797045009
openSNP	rs797045009
23andMe	rs797045009
SNPshot	rs797045009
SNPdbe	rs797045009
MSV3d	rs797045009
GWAS Ctlg	rs797045009

Max Magnitude

8.2

c.561C>A (p.Cys187Ter)

ClinVar
Risk	rs797045009(A;A)
Alt	rs797045009(A;A)
Reference	Rs797045009(C;C)
Significance	Pathogenic
Disease	Severe congenital neutropenia autosomal dominant
Variation	info
Gene	ELANE
CLNDBN	Severe congenital neutropenia autosomal dominant
Reversed	0
HGVS	NC_000019.9:g.855758C>A
CLNSRC
CLNACC	RCV000190507.1,