rs28931611

Orientation

plus

Stabilized

plus

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

Make rs28931611(C;C)

Reference

GRCh37 37.1/131

Chromosome

19

Position

853019

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs28931611
dbSNP (classic)	rs28931611
ClinGen	rs28931611
ebi	rs28931611
HLI	rs28931611
Exac	rs28931611
Gnomad	rs28931611
Varsome	rs28931611
LitVar	rs28931611
Map	rs28931611
PheGenI	rs28931611
Biobank	rs28931611
1000 genomes	rs28931611
hgdp	rs28931611
ensembl	rs28931611
geneview	rs28931611
scholar	rs28931611
google	rs28931611
pharmgkb	rs28931611
gwascentral	rs28931611
openSNP	rs28931611
23andMe	rs28931611
SNPshot	rs28931611
SNPdbe	rs28931611
MSV3d	rs28931611
GWAS Ctlg	rs28931611

Max Magnitude

8.2

c.211T>C (p.Cys71Arg)

OMIM	130130
Desc	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1
Variant	0009
Related	also

ClinVar
Risk	rs28931611(C;C)
Alt	rs28931611(C;C)
Reference	Rs28931611(T;T)
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.853019T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018230.27,