rs587779413

Orientation

plus

Stabilized

plus

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

Make rs587779413(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

68050224

Gene

TCIRG1

is a	snp
is	mentioned by
dbSNP	rs587779413
dbSNP (classic)	rs587779413
ClinGen	rs587779413
ebi	rs587779413
HLI	rs587779413
Exac	rs587779413
Gnomad	rs587779413
Varsome	rs587779413
LitVar	rs587779413
Map	rs587779413
PheGenI	rs587779413
Biobank	rs587779413
1000 genomes	rs587779413
hgdp	rs587779413
ensembl	rs587779413
geneview	rs587779413
scholar	rs587779413
google	rs587779413
pharmgkb	rs587779413
gwascentral	rs587779413
openSNP	rs587779413
23andMe	rs587779413
SNPshot	rs587779413
SNPdbe	rs587779413
MSV3d	rs587779413
GWAS Ctlg	rs587779413

Max Magnitude

8.2

c.2206C>A (p.Arg736Ser)

ClinVar
Risk	rs587779413(A;A)
Alt	rs587779413(A;A)
Reference	Rs587779413(C;C)
Significance	Pathogenic
Disease	congenital neutropenia Severe congenital neutropenia autosomal dominant
Variation	info
Gene	TCIRG1
CLNDBN	congenital neutropenia Severe congenital neutropenia autosomal dominant
Reversed	0
HGVS	NC_000011.9:g.67817691C>A
CLNSRC
CLNACC	RCV000133575.1, RCV000224333.1,