rs118204439

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 rs118204439(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88818072

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs118204439
dbSNP (classic)	rs118204439
ClinGen	rs118204439
ebi	rs118204439
HLI	rs118204439
Exac	rs118204439
Gnomad	rs118204439
Varsome	rs118204439
LitVar	rs118204439
Map	rs118204439
PheGenI	rs118204439
Biobank	rs118204439
1000 genomes	rs118204439
hgdp	rs118204439
ensembl	rs118204439
geneview	rs118204439
scholar	rs118204439
google	rs118204439
pharmgkb	rs118204439
gwascentral	rs118204439
openSNP	rs118204439
23andMe	rs118204439
SNPshot	rs118204439
SNPdbe	rs118204439
MSV3d	rs118204439
GWAS Ctlg	rs118204439

Max Magnitude

3

OMIM	612222
Desc
Variant	0006
Related	also

ClinVar
Risk	rs118204439(G;G) rs118204439(T;T)
Alt	rs118204439(G;G) rs118204439(T;T)
Reference	Rs118204439(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A
Reversed	1
HGVS	NC_000016.9:g.88884480G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000739.3,