rs1054938291

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

177442375

Gene	AGA, LOC285500

is a	snp
is	mentioned by
dbSNP	rs1054938291
dbSNP (classic)	rs1054938291
ClinGen	rs1054938291
ebi	rs1054938291
HLI	rs1054938291
Exac	rs1054938291
Gnomad	rs1054938291
Varsome	rs1054938291
LitVar	rs1054938291
Map	rs1054938291
PheGenI	rs1054938291
Biobank	rs1054938291
1000 genomes	rs1054938291
hgdp	rs1054938291
ensembl	rs1054938291
geneview	rs1054938291
scholar	rs1054938291
google	rs1054938291
pharmgkb	rs1054938291
gwascentral	rs1054938291
openSNP	rs1054938291
23andMe	rs1054938291
SNPshot	rs1054938291
SNPdbe	rs1054938291
MSV3d	rs1054938291
GWAS Ctlg	rs1054938291

Max Magnitude

0

ClinVar
Risk	rs1054938291(C;C)
Alt	rs1054938291(C;C)
Reference	Rs1054938291(T;T)
Significance	Probable-Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene
CLNDBN	Aspartylglycosaminuria
Reversed	0
HGVS	NC_000004.11:g.178363529T>C
CLNSRC
CLNACC	RCV000411846.1,