rs121918184

Orientation

minus

Stabilized

minus

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

Make rs121918184(G;T)

Make rs121918184(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

65960972

Gene

GUSB

is a	snp
is	mentioned by
dbSNP	rs121918184
dbSNP (classic)	rs121918184
ClinGen	rs121918184
ebi	rs121918184
HLI	rs121918184
Exac	rs121918184
Gnomad	rs121918184
Varsome	rs121918184
LitVar	rs121918184
Map	rs121918184
PheGenI	rs121918184
Biobank	rs121918184
1000 genomes	rs121918184
hgdp	rs121918184
ensembl	rs121918184
geneview	rs121918184
scholar	rs121918184
google	rs121918184
pharmgkb	rs121918184
gwascentral	rs121918184
openSNP	rs121918184
23andMe	rs121918184
SNPshot	rs121918184
SNPdbe	rs121918184
MSV3d	rs121918184
GWAS Ctlg	rs121918184

Max Magnitude

0

OMIM	611499
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121918184(T;T)
Alt	rs121918184(T;T)
Reference	Rs121918184(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type VII
Variation	info
Gene	GUSB
CLNDBN	Mucopolysaccharidosis type VII
Reversed	1
HGVS	NC_000007.13:g.65425959C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000955.5,