rs1057517062

Orientation

minus

Stabilized

minus

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

Make rs1057517062(-;-)

Make rs1057517062(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

177442348

Gene	AGA, LOC285500

is a	snp
is	mentioned by
dbSNP	rs1057517062
dbSNP (classic)	rs1057517062
ClinGen	rs1057517062
ebi	rs1057517062
HLI	rs1057517062
Exac	rs1057517062
Gnomad	rs1057517062
Varsome	rs1057517062
LitVar	rs1057517062
Map	rs1057517062
PheGenI	rs1057517062
Biobank	rs1057517062
1000 genomes	rs1057517062
hgdp	rs1057517062
ensembl	rs1057517062
geneview	rs1057517062
scholar	rs1057517062
google	rs1057517062
pharmgkb	rs1057517062
gwascentral	rs1057517062
openSNP	rs1057517062
23andMe	rs1057517062
SNPshot	rs1057517062
SNPdbe	rs1057517062
MSV3d	rs1057517062
GWAS Ctlg	rs1057517062

Max Magnitude

0

ClinVar
Risk	rs1057517062(-;-)
Alt	rs1057517062(-;-)
Reference	Rs1057517062(C;C)
Significance	Probable-Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178363502delG
CLNSRC
CLNACC	RCV000411313.1,