rs606231473

Orientation

minus

Stabilized

minus

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

Make rs606231473(C;T)

Make rs606231473(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

36472313

Gene

CSF3R

is a	snp
is	mentioned by
dbSNP	rs606231473
dbSNP (classic)	rs606231473
ClinGen	rs606231473
ebi	rs606231473
HLI	rs606231473
Exac	rs606231473
Gnomad	rs606231473
Varsome	rs606231473
LitVar	rs606231473
Map	rs606231473
PheGenI	rs606231473
Biobank	rs606231473
1000 genomes	rs606231473
hgdp	rs606231473
ensembl	rs606231473
geneview	rs606231473
scholar	rs606231473
google	rs606231473
pharmgkb	rs606231473
gwascentral	rs606231473
openSNP	rs606231473
23andMe	rs606231473
SNPshot	rs606231473
SNPdbe	rs606231473
MSV3d	rs606231473
GWAS Ctlg	rs606231473

Max Magnitude

0

ClinVar
Risk	rs606231473(T;T)
Alt	rs606231473(T;T)
Reference	Rs606231473(C;C)
Significance	Pathogenic
Disease	Severe congenital neutropenia Neutropenia
Variation	info
Gene	CSF3R
CLNDBN	Severe congenital neutropenia Neutropenia, severe congenital, 7, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.36937914G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149408.2, RCV000234854.1,