rs104894591

Orientation

plus

Stabilized

plus

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

Make rs104894591(C;T)

Make rs104894591(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42543882

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894591
dbSNP (classic)	rs104894591
ClinGen	rs104894591
ebi	rs104894591
HLI	rs104894591
Exac	rs104894591
Gnomad	rs104894591
Varsome	rs104894591
LitVar	rs104894591
Map	rs104894591
PheGenI	rs104894591
Biobank	rs104894591
1000 genomes	rs104894591
hgdp	rs104894591
ensembl	rs104894591
geneview	rs104894591
scholar	rs104894591
google	rs104894591
pharmgkb	rs104894591
gwascentral	rs104894591
openSNP	rs104894591
23andMe	rs104894591
SNPshot	rs104894591
SNPdbe	rs104894591
MSV3d	rs104894591
GWAS Ctlg	rs104894591

Max Magnitude

0

OMIM	609701
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894591(G;G) rs104894591(T;T)
Alt	rs104894591(G;G) rs104894591(T;T)
Reference	Rs104894591(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B not provided
Reversed	0
HGVS	NC_000017.10:g.40695900C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001627.4, RCV000153533.3,