rs121918185

Orientation

minus

Stabilized

minus

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

Make rs121918185(C;T)

Make rs121918185(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

65974701

Gene

GUSB

is a	snp
is	mentioned by
dbSNP	rs121918185
dbSNP (classic)	rs121918185
ClinGen	rs121918185
ebi	rs121918185
HLI	rs121918185
Exac	rs121918185
Gnomad	rs121918185
Varsome	rs121918185
LitVar	rs121918185
Map	rs121918185
PheGenI	rs121918185
Biobank	rs121918185
1000 genomes	rs121918185
hgdp	rs121918185
ensembl	rs121918185
geneview	rs121918185
scholar	rs121918185
google	rs121918185
pharmgkb	rs121918185
gwascentral	rs121918185
openSNP	rs121918185
23andMe	rs121918185
SNPshot	rs121918185
SNPdbe	rs121918185
MSV3d	rs121918185
GWAS Ctlg	rs121918185

Max Magnitude

0

OMIM	611499
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121918185(T;T)
Alt	rs121918185(T;T)
Reference	Rs121918185(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type VII Non-immune hydrops fetalis
Variation	info
Gene	GUSB
CLNDBN	Mucopolysaccharidosis type VII Non-immune hydrops fetalis
Reversed	1
HGVS	NC_000007.13:g.65439688G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000956.5, RCV000170582.1,