rs112321280

Orientation

plus

Stabilized

plus

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

Make rs112321280(A;G)

Make rs112321280(G;G)

Reference

GRCh37 37.1/132

Chromosome

9

Position

336714

Gene

DOCK8

is a	snp
is	mentioned by
dbSNP	rs112321280
dbSNP (classic)	rs112321280
ClinGen	rs112321280
ebi	rs112321280
HLI	rs112321280
Exac	rs112321280
Gnomad	rs112321280
Varsome	rs112321280
LitVar	rs112321280
Map	rs112321280
PheGenI	rs112321280
Biobank	rs112321280
1000 genomes	rs112321280
hgdp	rs112321280
ensembl	rs112321280
geneview	rs112321280
scholar	rs112321280
google	rs112321280
pharmgkb	rs112321280
gwascentral	rs112321280
openSNP	rs112321280
23andMe	rs112321280
SNPshot	rs112321280
SNPdbe	rs112321280
MSV3d	rs112321280
GWAS Ctlg	rs112321280

Max Magnitude

0

OMIM	611432
Desc
Variant	0001
Related	also

ClinVar
Risk	rs112321280(G;G)
Alt	rs112321280(G;G)
Reference	Rs112321280(A;A)
Significance	Pathogenic
Disease	Hyperimmunoglobulin E recurrent infection syndrome
Variation	info
Gene	DOCK8
CLNDBN	Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Reversed	0
HGVS	NC_000009.11:g.336714A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000999.2,