rs137854451

Orientation

plus

Stabilized

plus

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

Make rs137854451(A;A)

Make rs137854451(A;G)

Reference

GRCh37.p5 37.3/135

Chromosome

19

Position

856000

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs137854451
dbSNP (classic)	rs137854451
ClinGen	rs137854451
ebi	rs137854451
HLI	rs137854451
Exac	rs137854451
Gnomad	rs137854451
Varsome	rs137854451
LitVar	rs137854451
Map	rs137854451
PheGenI	rs137854451
Biobank	rs137854451
1000 genomes	rs137854451
hgdp	rs137854451
ensembl	rs137854451
geneview	rs137854451
scholar	rs137854451
google	rs137854451
pharmgkb	rs137854451
gwascentral	rs137854451
openSNP	rs137854451
23andMe	rs137854451
SNPshot	rs137854451
SNPdbe	rs137854451
MSV3d	rs137854451
GWAS Ctlg	rs137854451

Max Magnitude

0

OMIM	130130
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137854451(A;A)
Alt	rs137854451(A;A)
Reference	Rs137854451(G;G)
Significance	Pathogenic
Disease	Severe congenital neutropenia autosomal dominant not provided
Variation	info
Gene	ELANE
CLNDBN	Severe congenital neutropenia autosomal dominant not provided
Reversed	0
HGVS	NC_000019.9:g.856000G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018232.28, RCV000214338.1,