rs118204437

Orientation

minus

Stabilized

minus

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

Make rs118204437(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88824853

Gene	GALNS, LOC107987238

is a	snp
is	mentioned by
dbSNP	rs118204437
dbSNP (classic)	rs118204437
ClinGen	rs118204437
ebi	rs118204437
HLI	rs118204437
Exac	rs118204437
Gnomad	rs118204437
Varsome	rs118204437
LitVar	rs118204437
Map	rs118204437
PheGenI	rs118204437
Biobank	rs118204437
1000 genomes	rs118204437
hgdp	rs118204437
ensembl	rs118204437
geneview	rs118204437
scholar	rs118204437
google	rs118204437
pharmgkb	rs118204437
gwascentral	rs118204437
openSNP	rs118204437
23andMe	rs118204437
SNPshot	rs118204437
SNPdbe	rs118204437
MSV3d	rs118204437
GWAS Ctlg	rs118204437

Max Magnitude

3

OMIM	612222
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118204437(T;T)
Alt	rs118204437(T;T)
Reference	Rs118204437(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A not provided
Reversed	1
HGVS	NC_000016.9:g.88891261G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000735.4, RCV000079019.4,