rs587776941

Orientation

plus

Stabilized

minus

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

Make rs587776941(A;A)

Make rs587776941(A;C)

Reference

GRCh38 38.1/142

Chromosome

18

Position

45925881

Gene

EPG5

is a	snp
is	mentioned by
dbSNP	rs587776941
dbSNP (classic)	rs587776941
ClinGen	rs587776941
ebi	rs587776941
HLI	rs587776941
Exac	rs587776941
Gnomad	rs587776941
Varsome	rs587776941
LitVar	rs587776941
Map	rs587776941
PheGenI	rs587776941
Biobank	rs587776941
1000 genomes	rs587776941
hgdp	rs587776941
ensembl	rs587776941
geneview	rs587776941
scholar	rs587776941
google	rs587776941
pharmgkb	rs587776941
gwascentral	rs587776941
openSNP	rs587776941
23andMe	rs587776941
SNPshot	rs587776941
SNPdbe	rs587776941
MSV3d	rs587776941
GWAS Ctlg	rs587776941

Max Magnitude

0

ClinVar
Risk	rs587776941(A;A) Rs587776941(C;C)
Alt	rs587776941(A;A) Rs587776941(C;C)
Reference	Rs587776941(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.43505847C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033117.3,