rs1057516565

Orientation

minus

Stabilized

minus

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

Make rs1057516565(A;A)

Make rs1057516565(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

177442248

Gene	AGA, LOC285500

is a	snp
is	mentioned by
dbSNP	rs1057516565
dbSNP (classic)	rs1057516565
ClinGen	rs1057516565
ebi	rs1057516565
HLI	rs1057516565
Exac	rs1057516565
Gnomad	rs1057516565
Varsome	rs1057516565
LitVar	rs1057516565
Map	rs1057516565
PheGenI	rs1057516565
Biobank	rs1057516565
1000 genomes	rs1057516565
hgdp	rs1057516565
ensembl	rs1057516565
geneview	rs1057516565
scholar	rs1057516565
google	rs1057516565
pharmgkb	rs1057516565
gwascentral	rs1057516565
openSNP	rs1057516565
23andMe	rs1057516565
SNPshot	rs1057516565
SNPdbe	rs1057516565
MSV3d	rs1057516565
GWAS Ctlg	rs1057516565

Max Magnitude

0

ClinVar
Risk	rs1057516565(A;A)
Alt	rs1057516565(A;A)
Reference	Rs1057516565(G;G)
Significance	Probable-Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178363402C>T
CLNSRC
CLNACC	RCV000409941.1,