rs587777686

Orientation

plus

Stabilized

minus

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

Make rs587777686(A;A)

Make rs587777686(A;G)

Reference

GRCh38 38.1/142

Chromosome

8

Position

47789188

Gene

PRKDC

is a	snp
is	mentioned by
dbSNP	rs587777686
dbSNP (classic)	rs587777686
ClinGen	rs587777686
ebi	rs587777686
HLI	rs587777686
Exac	rs587777686
Gnomad	rs587777686
Varsome	rs587777686
LitVar	rs587777686
Map	rs587777686
PheGenI	rs587777686
Biobank	rs587777686
1000 genomes	rs587777686
hgdp	rs587777686
ensembl	rs587777686
geneview	rs587777686
scholar	rs587777686
google	rs587777686
pharmgkb	rs587777686
gwascentral	rs587777686
openSNP	rs587777686
23andMe	rs587777686
SNPshot	rs587777686
SNPdbe	rs587777686
MSV3d	rs587777686
GWAS Ctlg	rs587777686

Max Magnitude

0

ClinVar
Risk	rs587777686(A;A) Rs587777686(G;G)
Alt	rs587777686(A;A) Rs587777686(G;G)
Reference	Rs587777686(C;C)
Significance	Pathogenic
Disease	Immunodeficiency 26 with or without neurologic abnormalities
Variation	info
Gene	PRKDC
CLNDBN	Immunodeficiency 26 with or without neurologic abnormalities
Reversed	1
HGVS	NC_000008.10:g.48701749G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000142390.4,