rs137854447

Orientation

plus

Stabilized

plus

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

Make rs137854447(C;T)

Make rs137854447(T;T)

Reference

GRCh37.p5 37.3/135

Chromosome

19

Position

852990

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs137854447
dbSNP (classic)	rs137854447
ClinGen	rs137854447
ebi	rs137854447
HLI	rs137854447
Exac	rs137854447
Gnomad	rs137854447
Varsome	rs137854447
LitVar	rs137854447
Map	rs137854447
PheGenI	rs137854447
Biobank	rs137854447
1000 genomes	rs137854447
hgdp	rs137854447
ensembl	rs137854447
geneview	rs137854447
scholar	rs137854447
google	rs137854447
pharmgkb	rs137854447
gwascentral	rs137854447
openSNP	rs137854447
23andMe	rs137854447
SNPshot	rs137854447
SNPdbe	rs137854447
MSV3d	rs137854447
GWAS Ctlg	rs137854447

Max Magnitude

0

OMIM	130130
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137854447(A;A) rs137854447(G;G) rs137854447(T;T)
Alt	rs137854447(A;A) rs137854447(G;G) rs137854447(T;T)
Reference	Rs137854447(C;C)
Significance	Pathogenic
Disease	Cyclical neutropenia
Variation	info
Gene	ELANE
CLNDBN	Cyclical neutropenia
Reversed	0
HGVS	NC_000019.9:g.852990C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018224.28,