rs121964909

Orientation

minus

Stabilized

minus

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

Make rs121964909(C;C)

Make rs121964909(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

177440340

Gene

AGA

is a	snp
is	mentioned by
dbSNP	rs121964909
dbSNP (classic)	rs121964909
ClinGen	rs121964909
ebi	rs121964909
HLI	rs121964909
Exac	rs121964909
Gnomad	rs121964909
Varsome	rs121964909
LitVar	rs121964909
Map	rs121964909
PheGenI	rs121964909
Biobank	rs121964909
1000 genomes	rs121964909
hgdp	rs121964909
ensembl	rs121964909
geneview	rs121964909
scholar	rs121964909
google	rs121964909
pharmgkb	rs121964909
gwascentral	rs121964909
openSNP	rs121964909
23andMe	rs121964909
SNPshot	rs121964909
SNPdbe	rs121964909
MSV3d	rs121964909
GWAS Ctlg	rs121964909

Max Magnitude

0

OMIM	613228
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121964909(C;C)
Alt	rs121964909(C;C)
Reference	Rs121964909(T;T)
Significance	Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178361494A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000253.4,