rs121918182

Orientation

minus

Stabilized

minus

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

Make rs121918182(C;C)

Make rs121918182(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

65974934

Gene

GUSB

is a	snp
is	mentioned by
dbSNP	rs121918182
dbSNP (classic)	rs121918182
ClinGen	rs121918182
ebi	rs121918182
HLI	rs121918182
Exac	rs121918182
Gnomad	rs121918182
Varsome	rs121918182
LitVar	rs121918182
Map	rs121918182
PheGenI	rs121918182
Biobank	rs121918182
1000 genomes	rs121918182
hgdp	rs121918182
ensembl	rs121918182
geneview	rs121918182
scholar	rs121918182
google	rs121918182
pharmgkb	rs121918182
gwascentral	rs121918182
openSNP	rs121918182
23andMe	rs121918182
SNPshot	rs121918182
SNPdbe	rs121918182
MSV3d	rs121918182
GWAS Ctlg	rs121918182

GMAF

0.0004591

Max Magnitude

0

OMIM	611499
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121918182(A;A) rs121918182(C;C)
Alt	rs121918182(A;A) rs121918182(C;C)
Reference	Rs121918182(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type VII
Variation	info
Gene	GUSB
CLNDBN	Mucopolysaccharidosis type VII
Reversed	1
HGVS	NC_000007.13:g.65439921C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000954.5,