rs372893383

Orientation

plus

Stabilized

plus

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

Make rs372893383(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88814449

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs372893383
dbSNP (classic)	rs372893383
ClinGen	rs372893383
ebi	rs372893383
HLI	rs372893383
Exac	rs372893383
Gnomad	rs372893383
Varsome	rs372893383
LitVar	rs372893383
Map	rs372893383
PheGenI	rs372893383
Biobank	rs372893383
1000 genomes	rs372893383
hgdp	rs372893383
ensembl	rs372893383
geneview	rs372893383
scholar	rs372893383
google	rs372893383
pharmgkb	rs372893383
gwascentral	rs372893383
openSNP	rs372893383
23andMe	rs372893383
SNPshot	rs372893383
SNPdbe	rs372893383
MSV3d	rs372893383
GWAS Ctlg	rs372893383

Max Magnitude

3

ClinVar
Risk	rs372893383(T;T)
Alt	rs372893383(T;T)
Reference	Rs372893383(C;C)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis
Variation	info
Gene	GALNS
CLNDBN	not provided Mucopolysaccharidosis, MPS-IV-A
Reversed	0
HGVS	NC_000016.9:g.88880857C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000079029.3, RCV000174686.1,