rs118204435

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 rs118204435(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88836222

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs118204435
dbSNP (classic)	rs118204435
ClinGen	rs118204435
ebi	rs118204435
HLI	rs118204435
Exac	rs118204435
Gnomad	rs118204435
Varsome	rs118204435
LitVar	rs118204435
Map	rs118204435
PheGenI	rs118204435
Biobank	rs118204435
1000 genomes	rs118204435
hgdp	rs118204435
ensembl	rs118204435
geneview	rs118204435
scholar	rs118204435
google	rs118204435
pharmgkb	rs118204435
gwascentral	rs118204435
openSNP	rs118204435
23andMe	rs118204435
SNPshot	rs118204435
SNPdbe	rs118204435
MSV3d	rs118204435
GWAS Ctlg	rs118204435

Max Magnitude

3

OMIM	612222
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118204435(G;G)
Alt	rs118204435(G;G)
Reference	Rs118204435(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A
Reversed	1
HGVS	NC_000016.9:g.88902630G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000733.3,