rs104894596

Orientation

plus

Stabilized

plus

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

Make rs104894596(C;T)

Make rs104894596(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42543450

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894596
dbSNP (classic)	rs104894596
ClinGen	rs104894596
ebi	rs104894596
HLI	rs104894596
Exac	rs104894596
Gnomad	rs104894596
Varsome	rs104894596
LitVar	rs104894596
Map	rs104894596
PheGenI	rs104894596
Biobank	rs104894596
1000 genomes	rs104894596
hgdp	rs104894596
ensembl	rs104894596
geneview	rs104894596
scholar	rs104894596
google	rs104894596
pharmgkb	rs104894596
gwascentral	rs104894596
openSNP	rs104894596
23andMe	rs104894596
SNPshot	rs104894596
SNPdbe	rs104894596
MSV3d	rs104894596
GWAS Ctlg	rs104894596

Max Magnitude

0

OMIM	609701
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894596(T;T)
Alt	rs104894596(T;T)
Reference	Rs104894596(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B
Reversed	0
HGVS	NC_000017.10:g.40695468C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001637.4,