rs118204445

Orientation

minus

Stabilized

minus

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

Make rs118204445(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88842745

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs118204445
dbSNP (classic)	rs118204445
ClinGen	rs118204445
ebi	rs118204445
HLI	rs118204445
Exac	rs118204445
Gnomad	rs118204445
Varsome	rs118204445
LitVar	rs118204445
Map	rs118204445
PheGenI	rs118204445
Biobank	rs118204445
1000 genomes	rs118204445
hgdp	rs118204445
ensembl	rs118204445
geneview	rs118204445
scholar	rs118204445
google	rs118204445
pharmgkb	rs118204445
gwascentral	rs118204445
openSNP	rs118204445
23andMe	rs118204445
SNPshot	rs118204445
SNPdbe	rs118204445
MSV3d	rs118204445
GWAS Ctlg	rs118204445

Max Magnitude

3

OMIM	612222
Desc
Variant	0012
Related	also

ClinVar
Risk	rs118204445(G;G)
Alt	rs118204445(G;G)
Reference	Rs118204445(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A
Reversed	1
HGVS	NC_000016.9:g.88909153A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000745.3,