rs104894590

Orientation

plus

Stabilized

plus

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

Make rs104894590(A;A)

Make rs104894590(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42544027

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894590
dbSNP (classic)	rs104894590
ClinGen	rs104894590
ebi	rs104894590
HLI	rs104894590
Exac	rs104894590
Gnomad	rs104894590
Varsome	rs104894590
LitVar	rs104894590
Map	rs104894590
PheGenI	rs104894590
Biobank	rs104894590
1000 genomes	rs104894590
hgdp	rs104894590
ensembl	rs104894590
geneview	rs104894590
scholar	rs104894590
google	rs104894590
pharmgkb	rs104894590
gwascentral	rs104894590
openSNP	rs104894590
23andMe	rs104894590
SNPshot	rs104894590
SNPdbe	rs104894590
MSV3d	rs104894590
GWAS Ctlg	rs104894590

Max Magnitude

0

OMIM	609701
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894590(A;A)
Alt	rs104894590(A;A)
Reference	Rs104894590(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B not provided
Reversed	0
HGVS	NC_000017.10:g.40696045G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001626.3, RCV000078455.4,