rs1057517175

Orientation

minus

Stabilized

minus

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

Make rs1057517175(G;T)

Make rs1057517175(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

177436275

Gene

AGA

is a	snp
is	mentioned by
dbSNP	rs1057517175
dbSNP (classic)	rs1057517175
ClinGen	rs1057517175
ebi	rs1057517175
HLI	rs1057517175
Exac	rs1057517175
Gnomad	rs1057517175
Varsome	rs1057517175
LitVar	rs1057517175
Map	rs1057517175
PheGenI	rs1057517175
Biobank	rs1057517175
1000 genomes	rs1057517175
hgdp	rs1057517175
ensembl	rs1057517175
geneview	rs1057517175
scholar	rs1057517175
google	rs1057517175
pharmgkb	rs1057517175
gwascentral	rs1057517175
openSNP	rs1057517175
23andMe	rs1057517175
SNPshot	rs1057517175
SNPdbe	rs1057517175
MSV3d	rs1057517175
GWAS Ctlg	rs1057517175

Max Magnitude

0

ClinVar
Risk	rs1057517175(T;T)
Alt	rs1057517175(T;T)
Reference	Rs1057517175(G;G)
Significance	Probable-Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178357429C>A
CLNSRC
CLNACC	RCV000409628.1,