rs104894597

Orientation

plus

Stabilized

plus

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

Make rs104894597(C;T)

Make rs104894597(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42543699

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894597
dbSNP (classic)	rs104894597
ClinGen	rs104894597
ebi	rs104894597
HLI	rs104894597
Exac	rs104894597
Gnomad	rs104894597
Varsome	rs104894597
LitVar	rs104894597
Map	rs104894597
PheGenI	rs104894597
Biobank	rs104894597
1000 genomes	rs104894597
hgdp	rs104894597
ensembl	rs104894597
geneview	rs104894597
scholar	rs104894597
google	rs104894597
pharmgkb	rs104894597
gwascentral	rs104894597
openSNP	rs104894597
23andMe	rs104894597
SNPshot	rs104894597
SNPdbe	rs104894597
MSV3d	rs104894597
GWAS Ctlg	rs104894597

Max Magnitude

0

OMIM	609701
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894597(T;T)
Alt	rs104894597(T;T)
Reference	Rs104894597(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Sanfilippo syndrome
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B Sanfilippo syndrome
Reversed	0
HGVS	NC_000017.10:g.40695717C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001633.4, RCV000265203.1,