rs118204438

Orientation

minus

Stabilized

minus

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

Make rs118204438(T;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

88841077

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs118204438
dbSNP (classic)	rs118204438
ClinGen	rs118204438
ebi	rs118204438
HLI	rs118204438
Exac	rs118204438
Gnomad	rs118204438
Varsome	rs118204438
LitVar	rs118204438
Map	rs118204438
PheGenI	rs118204438
Biobank	rs118204438
1000 genomes	rs118204438
hgdp	rs118204438
ensembl	rs118204438
geneview	rs118204438
scholar	rs118204438
google	rs118204438
pharmgkb	rs118204438
gwascentral	rs118204438
openSNP	rs118204438
23andMe	rs118204438
SNPshot	rs118204438
SNPdbe	rs118204438
MSV3d	rs118204438
GWAS Ctlg	rs118204438

Max Magnitude

3

OMIM	612222
Desc
Variant	0005
Related	also

ClinVar
Risk	rs118204438(T;T)
Alt	rs118204438(T;T)
Reference	Rs118204438(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Morquio syndrome
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome
Reversed	1
HGVS	NC_000016.9:g.88907485T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000738.6, RCV000295527.1,