rs121918178

Orientation

minus

Stabilized

minus

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

Make rs121918178(A;G)

Make rs121918178(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

65967900

Gene

GUSB

is a	snp
is	mentioned by
dbSNP	rs121918178
dbSNP (classic)	rs121918178
ClinGen	rs121918178
ebi	rs121918178
HLI	rs121918178
Exac	rs121918178
Gnomad	rs121918178
Varsome	rs121918178
LitVar	rs121918178
Map	rs121918178
PheGenI	rs121918178
Biobank	rs121918178
1000 genomes	rs121918178
hgdp	rs121918178
ensembl	rs121918178
geneview	rs121918178
scholar	rs121918178
google	rs121918178
pharmgkb	rs121918178
gwascentral	rs121918178
openSNP	rs121918178
23andMe	rs121918178
SNPshot	rs121918178
SNPdbe	rs121918178
MSV3d	rs121918178
GWAS Ctlg	rs121918178

Max Magnitude

0

OMIM	611499
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918178(G;G)
Alt	rs121918178(G;G)
Reference	Rs121918178(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type VII
Variation	info
Gene	GUSB
CLNDBN	Mucopolysaccharidosis type VII
Reversed	1
HGVS	NC_000007.13:g.65432887T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000947.4,