rs1057519318

Orientation

minus

Stabilized

minus

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

Make rs1057519318(-;-)

Make rs1057519318(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

45899548

Gene

EPG5

is a	snp
is	mentioned by
dbSNP	rs1057519318
dbSNP (classic)	rs1057519318
ClinGen	rs1057519318
ebi	rs1057519318
HLI	rs1057519318
Exac	rs1057519318
Gnomad	rs1057519318
Varsome	rs1057519318
LitVar	rs1057519318
Map	rs1057519318
PheGenI	rs1057519318
Biobank	rs1057519318
1000 genomes	rs1057519318
hgdp	rs1057519318
ensembl	rs1057519318
geneview	rs1057519318
scholar	rs1057519318
google	rs1057519318
pharmgkb	rs1057519318
gwascentral	rs1057519318
openSNP	rs1057519318
23andMe	rs1057519318
SNPshot	rs1057519318
SNPdbe	rs1057519318
MSV3d	rs1057519318
GWAS Ctlg	rs1057519318

Max Magnitude

0

ClinVar
Risk	rs1057519318(-;-)
Alt	rs1057519318(-;-)
Reference	Rs1057519318(A;A)
Significance	Probable-Pathogenic
Disease	Absent corpus callosum cataract immunodeficiency
Variation	info
Gene	EPG5
CLNDBN	Absent corpus callosum cataract immunodeficiency
Reversed	1
HGVS	NC_000018.9:g.43479513delT
CLNSRC
CLNACC	RCV000416351.1,