rs1085308061

Orientation

minus

Stabilized

minus

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

Chromosome

18

Position

45910719

Gene

EPG5

is a	snp
is	mentioned by
dbSNP	rs1085308061
dbSNP (classic)	rs1085308061
ClinGen	rs1085308061
ebi	rs1085308061
HLI	rs1085308061
Exac	rs1085308061
Gnomad	rs1085308061
Varsome	rs1085308061
LitVar	rs1085308061
Map	rs1085308061
PheGenI	rs1085308061
Biobank	rs1085308061
1000 genomes	rs1085308061
hgdp	rs1085308061
ensembl	rs1085308061
geneview	rs1085308061
scholar	rs1085308061
google	rs1085308061
pharmgkb	rs1085308061
gwascentral	rs1085308061
openSNP	rs1085308061
23andMe	rs1085308061
SNPshot	rs1085308061
SNPdbe	rs1085308061
MSV3d	rs1085308061
GWAS Ctlg	rs1085308061

Max Magnitude

0

ClinVar
Risk	rs1085308061(A;A)
Alt	rs1085308061(A;A)
Reference	Rs1085308061(G;G)
Significance	Pathogenic
Disease	Absent corpus callosum cataract immunodeficiency
Variation	info
Gene	EPG5
CLNDBN	Absent corpus callosum cataract immunodeficiency
Reversed	1
HGVS	NC_000018.9:g.43490684C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000490629.1,