rs121964906

Orientation

minus

Stabilized

minus

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

Make rs121964906(C;C)

Make rs121964906(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

177433238

Gene

AGA

is a	snp
is	mentioned by
dbSNP	rs121964906
dbSNP (classic)	rs121964906
ClinGen	rs121964906
ebi	rs121964906
HLI	rs121964906
Exac	rs121964906
Gnomad	rs121964906
Varsome	rs121964906
LitVar	rs121964906
Map	rs121964906
PheGenI	rs121964906
Biobank	rs121964906
1000 genomes	rs121964906
hgdp	rs121964906
ensembl	rs121964906
geneview	rs121964906
scholar	rs121964906
google	rs121964906
pharmgkb	rs121964906
gwascentral	rs121964906
openSNP	rs121964906
23andMe	rs121964906
SNPshot	rs121964906
SNPdbe	rs121964906
MSV3d	rs121964906
GWAS Ctlg	rs121964906

Max Magnitude

0

OMIM	613228
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121964906(C;C)
Alt	rs121964906(C;C)
Reference	Rs121964906(T;T)
Significance	Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178354392A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000245.5,