rs104894594

Orientation

plus

Stabilized

plus

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

Make rs104894594(C;T)

Make rs104894594(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42543933

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894594
dbSNP (classic)	rs104894594
ClinGen	rs104894594
ebi	rs104894594
HLI	rs104894594
Exac	rs104894594
Gnomad	rs104894594
Varsome	rs104894594
LitVar	rs104894594
Map	rs104894594
PheGenI	rs104894594
Biobank	rs104894594
1000 genomes	rs104894594
hgdp	rs104894594
ensembl	rs104894594
geneview	rs104894594
scholar	rs104894594
google	rs104894594
pharmgkb	rs104894594
gwascentral	rs104894594
openSNP	rs104894594
23andMe	rs104894594
SNPshot	rs104894594
SNPdbe	rs104894594
MSV3d	rs104894594
GWAS Ctlg	rs104894594

Max Magnitude

0

OMIM	609701
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894594(T;T)
Alt	rs104894594(T;T)
Reference	Rs104894594(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B
Reversed	0
HGVS	NC_000017.10:g.40695951C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001631.6,