rs104894601

Orientation

plus

Stabilized

plus

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

Make rs104894601(C;T)

Make rs104894601(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42538691

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs104894601
dbSNP (classic)	rs104894601
ClinGen	rs104894601
ebi	rs104894601
HLI	rs104894601
Exac	rs104894601
Gnomad	rs104894601
Varsome	rs104894601
LitVar	rs104894601
Map	rs104894601
PheGenI	rs104894601
Biobank	rs104894601
1000 genomes	rs104894601
hgdp	rs104894601
ensembl	rs104894601
geneview	rs104894601
scholar	rs104894601
google	rs104894601
pharmgkb	rs104894601
gwascentral	rs104894601
openSNP	rs104894601
23andMe	rs104894601
SNPshot	rs104894601
SNPdbe	rs104894601
MSV3d	rs104894601
GWAS Ctlg	rs104894601

Max Magnitude

0

OMIM	609701
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894601(T;T)
Alt	rs104894601(T;T)
Reference	Rs104894601(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B
Reversed	0
HGVS	NC_000017.10:g.40690709C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001638.5,