rs1085308062

Orientation

minus

Stabilized

minus

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

Chromosome

18

Position

45930735

Gene

EPG5

is a	snp
is	mentioned by
dbSNP	rs1085308062
dbSNP (classic)	rs1085308062
ClinGen	rs1085308062
ebi	rs1085308062
HLI	rs1085308062
Exac	rs1085308062
Gnomad	rs1085308062
Varsome	rs1085308062
LitVar	rs1085308062
Map	rs1085308062
PheGenI	rs1085308062
Biobank	rs1085308062
1000 genomes	rs1085308062
hgdp	rs1085308062
ensembl	rs1085308062
geneview	rs1085308062
scholar	rs1085308062
google	rs1085308062
pharmgkb	rs1085308062
gwascentral	rs1085308062
openSNP	rs1085308062
23andMe	rs1085308062
SNPshot	rs1085308062
SNPdbe	rs1085308062
MSV3d	rs1085308062
GWAS Ctlg	rs1085308062

Max Magnitude

0

ClinVar
Risk	rs1085308062(G;G)
Alt	rs1085308062(G;G)
Reference	Rs1085308062(-;-)
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.43510701_43510702insC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000490632.1,