rs28936381

Orientation

minus

Stabilized

minus

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

Make rs28936381(A;G)

Make rs28936381(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

92476153

Gene

GFI1

is a	snp
is	mentioned by
dbSNP	rs28936381
dbSNP (classic)	rs28936381
ClinGen	rs28936381
ebi	rs28936381
HLI	rs28936381
Exac	rs28936381
Gnomad	rs28936381
Varsome	rs28936381
LitVar	rs28936381
Map	rs28936381
PheGenI	rs28936381
Biobank	rs28936381
1000 genomes	rs28936381
hgdp	rs28936381
ensembl	rs28936381
geneview	rs28936381
scholar	rs28936381
google	rs28936381
pharmgkb	rs28936381
gwascentral	rs28936381
openSNP	rs28936381
23andMe	rs28936381
SNPshot	rs28936381
SNPdbe	rs28936381
MSV3d	rs28936381
GWAS Ctlg	rs28936381

Max Magnitude

0

OMIM	600871
Desc	NEUTROPENIA, CONGENITAL, AUTOSOMAL DOMINANT 2
Variant	0001
Related	also

ClinVar
Risk	rs28936381(G;G)
Alt	rs28936381(G;G)
Reference	Rs28936381(A;A)
Significance	Pathogenic
Disease	Severe congenital neutropenia 2
Variation	info
Gene	GFI1
CLNDBN	Severe congenital neutropenia 2, autosomal dominant
Reversed	1
HGVS	NC_000001.10:g.92941710T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009278.2,