rs104894595

Orientation

plus

Stabilized

plus

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

Make rs104894595(C;T)

Make rs104894595(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42543568

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894595
dbSNP (classic)	rs104894595
ClinGen	rs104894595
ebi	rs104894595
HLI	rs104894595
Exac	rs104894595
Gnomad	rs104894595
Varsome	rs104894595
LitVar	rs104894595
Map	rs104894595
PheGenI	rs104894595
Biobank	rs104894595
1000 genomes	rs104894595
hgdp	rs104894595
ensembl	rs104894595
geneview	rs104894595
scholar	rs104894595
google	rs104894595
pharmgkb	rs104894595
gwascentral	rs104894595
openSNP	rs104894595
23andMe	rs104894595
SNPshot	rs104894595
SNPdbe	rs104894595
MSV3d	rs104894595
GWAS Ctlg	rs104894595

Max Magnitude

0

OMIM	609701
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894595(T;T)
Alt	rs104894595(T;T)
Reference	Rs104894595(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B
Reversed	0
HGVS	NC_000017.10:g.40695586C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001632.4,