rs587776942

Orientation

plus

Stabilized

plus

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

Make rs587776942(A;A)

Make rs587776942(A;G)

Reference

GRCh38 38.1/142

Chromosome

18

Position

45867742

Gene

EPG5

is a	snp
is	mentioned by
dbSNP	rs587776942
dbSNP (classic)	rs587776942
ClinGen	rs587776942
ebi	rs587776942
HLI	rs587776942
Exac	rs587776942
Gnomad	rs587776942
Varsome	rs587776942
LitVar	rs587776942
Map	rs587776942
PheGenI	rs587776942
Biobank	rs587776942
1000 genomes	rs587776942
hgdp	rs587776942
ensembl	rs587776942
geneview	rs587776942
scholar	rs587776942
google	rs587776942
pharmgkb	rs587776942
gwascentral	rs587776942
openSNP	rs587776942
23andMe	rs587776942
SNPshot	rs587776942
SNPdbe	rs587776942
MSV3d	rs587776942
GWAS Ctlg	rs587776942

Max Magnitude

0

ClinVar
Risk	rs587776942(A;A)
Alt	rs587776942(A;A)
Reference	Rs587776942(G;G)
Significance	Pathogenic
Disease	Absent corpus callosum cataract immunodeficiency
Variation	info
Gene	EPG5
CLNDBN	Absent corpus callosum cataract immunodeficiency
Reversed	0
HGVS	NC_000018.9:g.43447707G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033118.4,