rs121918174

Orientation

minus

Stabilized

minus

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

Make rs121918174(C;T)

Make rs121918174(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

65979477

Gene

GUSB

is a	snp
is	mentioned by
dbSNP	rs121918174
dbSNP (classic)	rs121918174
ClinGen	rs121918174
ebi	rs121918174
HLI	rs121918174
Exac	rs121918174
Gnomad	rs121918174
Varsome	rs121918174
LitVar	rs121918174
Map	rs121918174
PheGenI	rs121918174
Biobank	rs121918174
1000 genomes	rs121918174
hgdp	rs121918174
ensembl	rs121918174
geneview	rs121918174
scholar	rs121918174
google	rs121918174
pharmgkb	rs121918174
gwascentral	rs121918174
openSNP	rs121918174
23andMe	rs121918174
SNPshot	rs121918174
SNPdbe	rs121918174
MSV3d	rs121918174
GWAS Ctlg	rs121918174

Max Magnitude

0

OMIM	611499
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918174(T;T)
Alt	rs121918174(T;T)
Reference	Rs121918174(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type VII
Variation	info
Gene	GUSB
CLNDBN	Mucopolysaccharidosis type VII
Reversed	1
HGVS	NC_000007.13:g.65444464G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000943.5,