rs137854445

Orientation

plus

Stabilized

plus

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

Make rs137854445(A;A)

Make rs137854445(A;G)

Reference

GRCh37.p5 37.3/135

Chromosome

19

Position

856019

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs137854445
dbSNP (classic)	rs137854445
ClinGen	rs137854445
ebi	rs137854445
HLI	rs137854445
Exac	rs137854445
Gnomad	rs137854445
Varsome	rs137854445
LitVar	rs137854445
Map	rs137854445
PheGenI	rs137854445
Biobank	rs137854445
1000 genomes	rs137854445
hgdp	rs137854445
ensembl	rs137854445
geneview	rs137854445
scholar	rs137854445
google	rs137854445
pharmgkb	rs137854445
gwascentral	rs137854445
openSNP	rs137854445
23andMe	rs137854445
SNPshot	rs137854445
SNPdbe	rs137854445
MSV3d	rs137854445
GWAS Ctlg	rs137854445

Max Magnitude

0

OMIM	130130
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137854445(A;A) rs137854445(C;C)
Alt	rs137854445(A;A) rs137854445(C;C)
Reference	Rs137854445(G;G)
Significance	Pathogenic
Disease	Cyclical neutropenia
Variation	info
Gene	ELANE
CLNDBN	Cyclical neutropenia
Reversed	0
HGVS	NC_000019.9:g.856019G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018222.23,