rs104894593

Orientation

plus

Stabilized

plus

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

Make rs104894593(A;A)

Make rs104894593(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42543934

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894593
dbSNP (classic)	rs104894593
ClinGen	rs104894593
ebi	rs104894593
HLI	rs104894593
Exac	rs104894593
Gnomad	rs104894593
Varsome	rs104894593
LitVar	rs104894593
Map	rs104894593
PheGenI	rs104894593
Biobank	rs104894593
1000 genomes	rs104894593
hgdp	rs104894593
ensembl	rs104894593
geneview	rs104894593
scholar	rs104894593
google	rs104894593
pharmgkb	rs104894593
gwascentral	rs104894593
openSNP	rs104894593
23andMe	rs104894593
SNPshot	rs104894593
SNPdbe	rs104894593
MSV3d	rs104894593
GWAS Ctlg	rs104894593

Max Magnitude

0

OMIM	609701
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894593(A;A)
Alt	rs104894593(A;A)
Reference	Rs104894593(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B
Reversed	0
HGVS	NC_000017.10:g.40695952G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001629.6,