rs118204024

Orientation

plus

Stabilized

plus

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

Make rs118204024(C;C)

Make rs118204024(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42536414

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs118204024
dbSNP (classic)	rs118204024
ClinGen	rs118204024
ebi	rs118204024
HLI	rs118204024
Exac	rs118204024
Gnomad	rs118204024
Varsome	rs118204024
LitVar	rs118204024
Map	rs118204024
PheGenI	rs118204024
Biobank	rs118204024
1000 genomes	rs118204024
hgdp	rs118204024
ensembl	rs118204024
geneview	rs118204024
scholar	rs118204024
google	rs118204024
pharmgkb	rs118204024
gwascentral	rs118204024
openSNP	rs118204024
23andMe	rs118204024
SNPshot	rs118204024
SNPdbe	rs118204024
MSV3d	rs118204024
GWAS Ctlg	rs118204024

Max Magnitude

0

OMIM	609701
Desc
Variant	0010
Related	also

ClinVar
Risk	rs118204024(C;C)
Alt	rs118204024(C;C)
Reference	Rs118204024(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	NAGLU
CLNDBN	Mucopolysaccharidosis, MPS-III-B
Reversed	0
HGVS	NC_000017.10:g.40688432T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001635.4,