rs104894592

Orientation

plus

Stabilized

plus

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

Make rs104894592(C;T)

Make rs104894592(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42541074

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894592
dbSNP (classic)	rs104894592
ClinGen	rs104894592
ebi	rs104894592
HLI	rs104894592
Exac	rs104894592
Gnomad	rs104894592
Varsome	rs104894592
LitVar	rs104894592
Map	rs104894592
PheGenI	rs104894592
Biobank	rs104894592
1000 genomes	rs104894592
hgdp	rs104894592
ensembl	rs104894592
geneview	rs104894592
scholar	rs104894592
google	rs104894592
pharmgkb	rs104894592
gwascentral	rs104894592
openSNP	rs104894592
23andMe	rs104894592
SNPshot	rs104894592
SNPdbe	rs104894592
MSV3d	rs104894592
GWAS Ctlg	rs104894592

Max Magnitude

0

OMIM	609701
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894592(T;T)
Alt	rs104894592(T;T)
Reference	Rs104894592(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Sanfilippo syndrome not provided
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B Sanfilippo syndrome not provided
Reversed	0
HGVS	NC_000017.10:g.40693092C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001628.5, RCV000337483.1, RCV000485168.1,