rs377519272

Orientation

plus

Stabilized

plus

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

Make rs377519272(A;A)

Make rs377519272(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

65967767

Gene

GUSB

is a	snp
is	mentioned by
dbSNP	rs377519272
dbSNP (classic)	rs377519272
ClinGen	rs377519272
ebi	rs377519272
HLI	rs377519272
Exac	rs377519272
Gnomad	rs377519272
Varsome	rs377519272
LitVar	rs377519272
Map	rs377519272
PheGenI	rs377519272
Biobank	rs377519272
1000 genomes	rs377519272
hgdp	rs377519272
ensembl	rs377519272
geneview	rs377519272
scholar	rs377519272
google	rs377519272
pharmgkb	rs377519272
gwascentral	rs377519272
openSNP	rs377519272
23andMe	rs377519272
SNPshot	rs377519272
SNPdbe	rs377519272
MSV3d	rs377519272
GWAS Ctlg	rs377519272

Max Magnitude

0

ClinVar
Risk	rs377519272(A;A)
Alt	rs377519272(A;A)
Reference	Rs377519272(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis type VII
Variation	info
Gene	GUSB
CLNDBN	Mucopolysaccharidosis type VII
Reversed	0
HGVS	NC_000007.13:g.65432754G>A
CLNSRC	OMIM Allelic Variant dbVar
CLNACC	RCV000000949.4,