rs587776940

Orientation

plus

Stabilized

plus

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

Make rs587776940(A;A)

Make rs587776940(A;G)

Reference

GRCh38 38.1/142

Chromosome

18

Position

45916110

Gene

EPG5

is a	snp
is	mentioned by
dbSNP	rs587776940
dbSNP (classic)	rs587776940
ClinGen	rs587776940
ebi	rs587776940
HLI	rs587776940
Exac	rs587776940
Gnomad	rs587776940
Varsome	rs587776940
LitVar	rs587776940
Map	rs587776940
PheGenI	rs587776940
Biobank	rs587776940
1000 genomes	rs587776940
hgdp	rs587776940
ensembl	rs587776940
geneview	rs587776940
scholar	rs587776940
google	rs587776940
pharmgkb	rs587776940
gwascentral	rs587776940
openSNP	rs587776940
23andMe	rs587776940
SNPshot	rs587776940
SNPdbe	rs587776940
MSV3d	rs587776940
GWAS Ctlg	rs587776940

Max Magnitude

0

ClinVar
Risk	rs587776940(A;A) rs587776940(C;C)
Alt	rs587776940(A;A) rs587776940(C;C)
Reference	Rs587776940(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.43496075G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033116.4,