rs137854449

Orientation

plus

Stabilized

plus

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

Make rs137854449(A;A)

Make rs137854449(A;G)

Reference

GRCh37.p5 37.3/135

Chromosome

19

Position

853338

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs137854449
dbSNP (classic)	rs137854449
ClinGen	rs137854449
ebi	rs137854449
HLI	rs137854449
Exac	rs137854449
Gnomad	rs137854449
Varsome	rs137854449
LitVar	rs137854449
Map	rs137854449
PheGenI	rs137854449
Biobank	rs137854449
1000 genomes	rs137854449
hgdp	rs137854449
ensembl	rs137854449
geneview	rs137854449
scholar	rs137854449
google	rs137854449
pharmgkb	rs137854449
gwascentral	rs137854449
openSNP	rs137854449
23andMe	rs137854449
SNPshot	rs137854449
SNPdbe	rs137854449
MSV3d	rs137854449
GWAS Ctlg	rs137854449

Merged from

Rs28929494

Max Magnitude

0

OMIM	130130
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137854449(A;A) rs137854449(T;T)
Alt	rs137854449(A;A) rs137854449(T;T)
Reference	Rs137854449(G;G)
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.853338G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018231.28,