rs118204441

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation

Make rs118204441(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88841936

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs118204441
dbSNP (classic)	rs118204441
ClinGen	rs118204441
ebi	rs118204441
HLI	rs118204441
Exac	rs118204441
Gnomad	rs118204441
Varsome	rs118204441
LitVar	rs118204441
Map	rs118204441
PheGenI	rs118204441
Biobank	rs118204441
1000 genomes	rs118204441
hgdp	rs118204441
ensembl	rs118204441
geneview	rs118204441
scholar	rs118204441
google	rs118204441
pharmgkb	rs118204441
gwascentral	rs118204441
openSNP	rs118204441
23andMe	rs118204441
SNPshot	rs118204441
SNPdbe	rs118204441
MSV3d	rs118204441
GWAS Ctlg	rs118204441

Max Magnitude

3

OMIM	612222
Desc
Variant	0008
Related	also

ClinVar
Risk	rs118204441(G;G)
Alt	rs118204441(G;G)
Reference	Rs118204441(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A
Reversed	1
HGVS	NC_000016.9:g.88908344G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000740.3,