rs121964907

Orientation

minus

Stabilized

minus

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

Make rs121964907(A;A)

Make rs121964907(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

177440375

Gene

AGA

is a	snp
is	mentioned by
dbSNP	rs121964907
dbSNP (classic)	rs121964907
ClinGen	rs121964907
ebi	rs121964907
HLI	rs121964907
Exac	rs121964907
Gnomad	rs121964907
Varsome	rs121964907
LitVar	rs121964907
Map	rs121964907
PheGenI	rs121964907
Biobank	rs121964907
1000 genomes	rs121964907
hgdp	rs121964907
ensembl	rs121964907
geneview	rs121964907
scholar	rs121964907
google	rs121964907
pharmgkb	rs121964907
gwascentral	rs121964907
openSNP	rs121964907
23andMe	rs121964907
SNPshot	rs121964907
SNPdbe	rs121964907
MSV3d	rs121964907
GWAS Ctlg	rs121964907

Max Magnitude

0

OMIM	613228
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121964907(A;A)
Alt	rs121964907(A;A)
Reference	Rs121964907(G;G)
Significance	Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178361529C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000246.5,