rs137854450

Orientation

plus

Stabilized

plus

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

Make rs137854450(T;T)

Reference

GRCh37.p5 37.3/135

Chromosome

19

Position

855574

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs137854450
dbSNP (classic)	rs137854450
ClinGen	rs137854450
ebi	rs137854450
HLI	rs137854450
Exac	rs137854450
Gnomad	rs137854450
Varsome	rs137854450
LitVar	rs137854450
Map	rs137854450
PheGenI	rs137854450
Biobank	rs137854450
1000 genomes	rs137854450
hgdp	rs137854450
ensembl	rs137854450
geneview	rs137854450
scholar	rs137854450
google	rs137854450
pharmgkb	rs137854450
gwascentral	rs137854450
openSNP	rs137854450
23andMe	rs137854450
SNPshot	rs137854450
SNPdbe	rs137854450
MSV3d	rs137854450
GWAS Ctlg	rs137854450

Max Magnitude

8.2

c.377C>T (p.Ser126Leu)

OMIM	130130
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137854450(A;A) rs137854450(T;T)
Alt	rs137854450(A;A) rs137854450(T;T)
Reference	Rs137854450(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.855574C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018229.28,