rs387906630

Orientation

minus

Stabilized

minus

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

Make rs387906630(C;T)

Make rs387906630(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

128485837

Gene

GATA2

is a	snp
is	mentioned by
dbSNP	rs387906630
dbSNP (classic)	rs387906630
ClinGen	rs387906630
ebi	rs387906630
HLI	rs387906630
Exac	rs387906630
Gnomad	rs387906630
Varsome	rs387906630
LitVar	rs387906630
Map	rs387906630
PheGenI	rs387906630
Biobank	rs387906630
1000 genomes	rs387906630
hgdp	rs387906630
ensembl	rs387906630
geneview	rs387906630
scholar	rs387906630
google	rs387906630
pharmgkb	rs387906630
gwascentral	rs387906630
openSNP	rs387906630
23andMe	rs387906630
SNPshot	rs387906630
SNPdbe	rs387906630
MSV3d	rs387906630
GWAS Ctlg	rs387906630

Max Magnitude

0

ClinVar
Risk	rs387906630(T;T)
Alt	rs387906630(T;T)
Reference	Rs387906630(C;C)
Significance	Pathogenic
Disease	Dendritic cell
Variation	info
Gene	GATA2
CLNDBN	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Reversed	1
HGVS	NC_000003.11:g.128204680G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022560.24,